{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T15:04:30Z","timestamp":1789398270053,"version":"build-2803163510"},"reference-count":281,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,7,1]],"date-time":"2025-07-01T00:00:00Z","timestamp":1751328000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Progress in Retinal and Eye Research"],"published-print":{"date-parts":[[2025,7]]},"DOI":"10.1016\/j.preteyeres.2025.101373","type":"journal-article","created":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T11:14:17Z","timestamp":1748517257000},"page":"101373","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"special_numbering":"C","title":["Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes"],"prefix":"10.1016","volume":"107","author":[{"given":"Dongwei","family":"Guo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuxi","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiqiang","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangming","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueshan","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyun","family":"Jia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenmin","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danying","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James Fielding","family":"Hejtmancik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingjiong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.preteyeres.2025.101373_bib1","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.ophtha.2017.07.003","article-title":"Incidence, risk factors, and outcomes of retinal detachment after pediatric cataract surgery","volume":"125","author":"Agarkar","year":"2018","journal-title":"Ophthalmology"},{"key":"10.1016\/j.preteyeres.2025.101373_bib2","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1002\/humu.22071","article-title":"Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus","volume":"33","author":"Aldahmesh","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.preteyeres.2025.101373_bib3","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1038\/eye.2009.295","article-title":"Long-term visual outcome after extraction of unilateral congenital cataracts","volume":"24","author":"Allen","year":"2010","journal-title":"Eye (London, England)"},{"key":"10.1016\/j.preteyeres.2025.101373_bib4","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1080\/2576117X.2023.2229812","article-title":"Indications for systemic and genetic testing in patients with congenital cataracts","volume":"73","author":"Amine","year":"2023","journal-title":"J. Binocular Vision and Ocular Motility"},{"key":"10.1016\/j.preteyeres.2025.101373_bib5","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/humu.23395","article-title":"Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects","volume":"39","author":"Anand","year":"2018","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.preteyeres.2025.101373_bib6","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1016\/j.ajhg.2018.09.004","article-title":"Bi-Allelic loss-of-function variants in DNMBP cause infantile cataracts","volume":"103","author":"Ansar","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib7","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1364\/OL.23.001713","article-title":"Contributions of the cornea and the lens to the aberrations of the human eye","volume":"23","author":"Artal","year":"1998","journal-title":"Opt Lett."},{"key":"10.1016\/j.preteyeres.2025.101373_bib8","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1055\/s-0042-120841","article-title":"Prenatal ultrasonographic diagnosis of cataract: in utero manifestations of cryptic disease","volume":"39","author":"Ashwal","year":"2018","journal-title":"Ultraschall Med."},{"key":"10.1016\/j.preteyeres.2025.101373_bib9","doi-asserted-by":"crossref","first-page":"2637","DOI":"10.1002\/ajmg.a.40524","article-title":"Next generation sequencing-based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genes","volume":"176","author":"Astiazar\u00e1n","year":"2018","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib10","series-title":"Visual Transduction and Non-visual Light Perception","first-page":"3","article-title":"An organ of exquisite perfection","author":"Ayoub","year":"2008"},{"key":"10.1016\/j.preteyeres.2025.101373_bib11","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1038\/ng1295-444","article-title":"Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract","volume":"11","author":"Beaumont","year":"1995","journal-title":"Nat. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib12","doi-asserted-by":"crossref","DOI":"10.1016\/j.redox.2023.102869","article-title":"Unbalanced redox status network as an early pathological event in congenital cataracts","volume":"66","author":"Bejarano","year":"2023","journal-title":"Redox Biol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib13","article-title":"Congenital cataract: a guide to genetic and clinical management","volume":"1","author":"Bell","year":"2020","journal-title":"Ther. Adv. Respir. Dis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib14","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1364\/AO.10.000459","article-title":"Theory of transparency of the eye","volume":"10","author":"Benedek","year":"1971","journal-title":"Appl. Opt."},{"key":"10.1016\/j.preteyeres.2025.101373_bib15","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1038\/gim.2012.112","article-title":"An informatics approach to analyzing the incidentalome","volume":"15","author":"Berg","year":"2013","journal-title":"Genet. Med. : off. J. American College of Medical Genetics"},{"key":"10.1016\/j.preteyeres.2025.101373_bib16","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1136\/bjophthalmol-2019-315282","article-title":"Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches","volume":"104","author":"Berry","year":"2020","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib17","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1186\/s13023-020-01613-3","article-title":"The genetic landscape of crystallins in congenital cataract","volume":"15","author":"Berry","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib18","doi-asserted-by":"crossref","first-page":"5822","DOI":"10.3390\/ijms21165822","article-title":"Connexin mutants compromise the lens circulation and cause cataracts through biomineralization","volume":"21","author":"Berthoud","year":"2020","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib19","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/s12860-016-0116-6","article-title":"Focus on lens connexins","volume":"18","author":"Berthoud","year":"2017","journal-title":"BMC Cell Biol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib20","doi-asserted-by":"crossref","first-page":"20","DOI":"10.3389\/fphys.2014.00020","article-title":"Connexin hemichannels in the lens","volume":"5","author":"Beyer","year":"2014","journal-title":"Front. Physiol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib21","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.jaapos.2008.07.010","article-title":"The critical period for surgical treatment of dense congenital bilateral cataracts","volume":"13","author":"Birch","year":"2009","journal-title":"J. AAPOS."},{"key":"10.1016\/j.preteyeres.2025.101373_bib22","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1001\/jamaophthalmol.2023.3535","article-title":"GJA3 genetic variation and autosomal dominant congenital cataracts and glaucoma following cataract surgery","volume":"141","author":"Boese","year":"2023","journal-title":"JAMA Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib23","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1146\/annurev.biochem.68.1.425","article-title":"Cellular and molecular biology of the aquaporin water channels","volume":"68","author":"Borgnia","year":"1999","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.preteyeres.2025.101373_bib24","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1007\/s10545-006-0382-0","article-title":"Classical galactosaemia revisited","volume":"29","author":"Bosch","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib25","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1001\/jamaophthalmol.2022.6413","article-title":"Incidence of glaucoma-related adverse events in the first 5 Years after pediatric lensectomy","volume":"141","author":"Bothun","year":"2023","journal-title":"JAMA Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib26","doi-asserted-by":"crossref","first-page":"5797","DOI":"10.1242\/jcs.02701","article-title":"LEM2 is a novel MAN1-related inner nuclear membrane protein associated with A-type lamins","volume":"118","author":"Brachner","year":"2005","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib27","doi-asserted-by":"crossref","first-page":"475","DOI":"10.3390\/cells12030475","article-title":"Autophagy requirements for eye lens differentiation and transparency","volume":"12","author":"Brennan","year":"2023","journal-title":"Cells"},{"issue":"Pt 1","key":"10.1016\/j.preteyeres.2025.101373_bib28","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1038\/eye.1993.14","article-title":"The morphology of cataract and visual performance","volume":"7","author":"Brown","year":"1993","journal-title":"Eye (London, England)"},{"key":"10.1016\/j.preteyeres.2025.101373_bib29","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1038\/nrm2972","article-title":"The engine driving the ship: metabolic steering of cell proliferation and death","volume":"11","author":"Buchakjian","year":"2010","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib30","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1086\/379381","article-title":"Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation","volume":"73","author":"Burdon","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib31","doi-asserted-by":"crossref","DOI":"10.1016\/j.abb.2023.109700","article-title":"Arginine-178 is an essential residue for ITPA function","volume":"744","author":"Burgis","year":"2023","journal-title":"Arch. Biochem. Biophys."},{"key":"10.1016\/j.preteyeres.2025.101373_bib32","doi-asserted-by":"crossref","first-page":"800","DOI":"10.18240\/ijo.2021.06.03","article-title":"A mutated CRYGD associated with congenital coralliform cataracts in two Chinese pedigrees","volume":"14","author":"Cai","year":"2021","journal-title":"Int. J. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib33","first-page":"Cr31","article-title":"Surgical technique and postoperative complications in congenital cataract surgery","volume":"12","author":"Cakmak","year":"2006","journal-title":"Med. Sci. Monit. : Int. Medical J. Experimental and Clinical Res."},{"key":"10.1016\/j.preteyeres.2025.101373_bib34","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1111\/aos.13974","article-title":"Efficacy and safety of vitrectomy for congenital cataract surgery: a systematic review and meta-analysis based on randomized and controlled trials","volume":"97","author":"Cao","year":"2019","journal-title":"Acta Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib35","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1111\/ceo.12178","article-title":"Caught between a rock and a hard place: what is the optimal timing for infantile cataract surgery?","volume":"41","author":"Carden","year":"2013","journal-title":"Clin. Exp. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib36","doi-asserted-by":"crossref","first-page":"541","DOI":"10.3390\/ijms19020541","article-title":"Impact of arginine to cysteine mutations in collagen II on protein secretion and cell survival","volume":"19","author":"Chakkalakal","year":"2018","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib37","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1016\/j.ajhg.2011.05.008","article-title":"Mutations in FYCO1 cause autosomal-recessive congenital cataracts","volume":"88","author":"Chen","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib38","doi-asserted-by":"crossref","first-page":"8376","DOI":"10.1111\/jcmm.16797","article-title":"Metformin alleviates oxidative stress-induced senescence of human lens epithelial cells via AMPK activation and autophagic flux restoration","volume":"25","author":"Chen","year":"2021","journal-title":"J. Cell Mol. Med."},{"key":"10.1016\/j.preteyeres.2025.101373_bib39","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/j.tjog.2015.06.004","article-title":"Congenital cataracts diagnosed by prenatal ultrasound","volume":"54","author":"Chen","year":"2015","journal-title":"Taiwan. J. Obstet. Gynecol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib40","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.exer.2016.03.005","article-title":"The lens actin filament cytoskeleton: diverse structures for complex functions","volume":"156","author":"Cheng","year":"2017","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.preteyeres.2025.101373_bib41","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1038\/ejhg.2011.52","article-title":"The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly","volume":"19","author":"Chograni","year":"2011","journal-title":"Eur. J. Hum. Genet. : EJHG (Eur. J. Hum. Genet.)"},{"key":"10.1016\/j.preteyeres.2025.101373_bib42","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1007\/BF00278187","article-title":"The CpG dinucleotide and human genetic disease","volume":"78","author":"Cooper","year":"1988","journal-title":"Hum. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib43","first-page":"146","volume":"vol. 12","author":"Cornelius","year":"2024"},{"key":"10.1016\/j.preteyeres.2025.101373_bib44","first-page":"2023","article-title":"The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family","volume":"13","author":"Cui","year":"2007","journal-title":"Mol. Vis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib45","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1016\/j.ajhg.2023.05.009","article-title":"Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias","volume":"110","author":"Cunha","year":"2023","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib46","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1016\/j.preteyeres.2007.07.002","article-title":"Genetic and epigenetic mechanisms of gene regulation during lens development","volume":"26","author":"Cvekl","year":"2007","journal-title":"Prog. Retin. Eye Res."},{"key":"10.1016\/j.preteyeres.2025.101373_bib47","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1186\/s40478-019-0869-1","article-title":"Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy","volume":"7","author":"Dafsari","year":"2019","journal-title":"Acta Neuropathol. Commun."},{"key":"10.1016\/j.preteyeres.2025.101373_bib48","doi-asserted-by":"crossref","first-page":"12713","DOI":"10.3390\/ijms222312713","article-title":"Fine breakpoint mapping by genome sequencing reveals the first large X inversion disrupting the NHS gene in a patient with syndromic cataracts","volume":"22","author":"Dami\u00e1n","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib49","doi-asserted-by":"crossref","first-page":"8459","DOI":"10.1038\/s41598-019-44676-4","article-title":"Failure of oxysterols such as lanosterol to restore lens clarity from cataracts","volume":"9","author":"Daszynski","year":"2019","journal-title":"Sci. Rep."},{"key":"10.1016\/j.preteyeres.2025.101373_bib50","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.ophtha.2015.10.007","article-title":"Longitudinal study of age-related cataract using dynamic light scattering: loss of alpha-crystallin leads to nuclear cataract development","volume":"123","author":"Datiles","year":"2016","journal-title":"Ophthalmology"},{"key":"10.1016\/j.preteyeres.2025.101373_bib51","doi-asserted-by":"crossref","first-page":"1739","DOI":"10.1002\/humu.23611","article-title":"Exploring genetic modifiers of Gaucher disease: the next horizon","volume":"39","author":"Davidson","year":"2018","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.preteyeres.2025.101373_bib52","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1038\/302415a0","article-title":"Short-range order of crystallin proteins accounts for eye lens transparency","volume":"302","author":"Delaye","year":"1983","journal-title":"Nature"},{"key":"10.1016\/j.preteyeres.2025.101373_bib53","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1016\/j.jcrs.2010.12.037","article-title":"Anatomy and physiology of the cornea","volume":"37","author":"DelMonte","year":"2011","journal-title":"J. Cataract Refract. Surg."},{"key":"10.1016\/j.preteyeres.2025.101373_bib54","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1016\/j.metabol.2018.01.025","article-title":"Hereditary galactosemia","volume":"83","author":"Demirbas","year":"2018","journal-title":"Metab. Clin. Exp."},{"key":"10.1016\/j.preteyeres.2025.101373_bib55","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1016\/j.preteyeres.2016.09.002","article-title":"The physiological optics of the lens","volume":"56","author":"Donaldson","year":"2017","journal-title":"Prog. Retin. Eye Res."},{"key":"10.1016\/j.preteyeres.2025.101373_bib56","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1016\/j.ajhg.2020.11.002","article-title":"Pathogenic variants in the myosin chaperone UNC-45B cause progressive myopathy with eccentric cores","volume":"107","author":"Donkervoort","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib57","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1016\/j.ajhg.2013.08.006","article-title":"Actionable, pathogenic incidental findings in 1,000 participants' exomes","volume":"93","author":"Dorschner","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib58","series-title":"Handbook of Nutrition, Diet and the Eye","first-page":"21","article-title":"Chapter 3 - cataracts: an overview","author":"Erdurmu\u015f","year":"2014"},{"key":"10.1016\/j.preteyeres.2025.101373_bib59","doi-asserted-by":"crossref","first-page":"1627","DOI":"10.1038\/ejhg.2015.46","article-title":"SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract","volume":"23","author":"Evers","year":"2015","journal-title":"Eur. J. Hum. Genet. : EJHG (Eur. J. Hum. Genet.)"},{"key":"10.1016\/j.preteyeres.2025.101373_bib60","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1136\/bjophthalmol-2016-309392","article-title":"Cataract surgery in children with retinopathy of prematurity (ROP): surgical outcomes","volume":"101","author":"Ezisi","year":"2017","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib61","first-page":"76","article-title":"Specific interaction between lens MIP\/Aquaporin-0 and two members of the gamma-crystallin family","volume":"11","author":"Fan","year":"2005","journal-title":"Mol. Vis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib62","doi-asserted-by":"crossref","first-page":"5332","DOI":"10.1167\/iovs.14-14710","article-title":"Nystagmus and related fixation instabilities following extraction of unilateral infantile cataract in the Infant Aphakia Treatment Study (IATS)","volume":"55","author":"Felius","year":"2014","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib63","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1159\/000309186","article-title":"Genetics of cataract","volume":"184","author":"Fran\u00e7ois","year":"1982","journal-title":"Ophthalmologica. J. Int. d'ophtalmologie. Int. J. Ophthalmol. Zeitschrift fur Augenheilkunde"},{"key":"10.1016\/j.preteyeres.2025.101373_bib64","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1001\/jamaophthalmol.2019.4571","article-title":"Incidence and management of glaucoma or glaucoma suspect in the first year after pediatric lensectomy","volume":"138","author":"Freedman","year":"2020","journal-title":"JAMA Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib65","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1167\/iovs.16-20504","article-title":"Generation of functional lentoid bodies from human induced pluripotent stem cells derived from urinary cells","volume":"58","author":"Fu","year":"2017","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib66","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1007\/s003359900970","article-title":"The bicoid-related Pitx gene family in development","volume":"10","author":"Gage","year":"1999","journal-title":"Mamm. Genome : official j. Int. Mammalian Genome Society"},{"key":"10.1016\/j.preteyeres.2025.101373_bib67","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1007\/s10545-017-0060-4","article-title":"Cysteamine revisited: repair of arginine to cysteine mutations","volume":"40","author":"Gallego-Villar","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib68","doi-asserted-by":"crossref","first-page":"C492","DOI":"10.1152\/ajpcell.00277.2017","article-title":"Disruption of the lens circulation causes calcium accumulation and precipitates in connexin mutant mice","volume":"314","author":"Gao","year":"2018","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib69","doi-asserted-by":"crossref","first-page":"2165","DOI":"10.1021\/acs.biochem.2c00349","article-title":"Cysteine oxidation in proteins: structure, biophysics, and simulation","volume":"61","author":"Garrido Ruiz","year":"2022","journal-title":"Biochemistry"},{"key":"10.1016\/j.preteyeres.2025.101373_bib70","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1016\/j.ajo.2005.11.008","article-title":"Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract","volume":"141","author":"Geyer","year":"2006","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib71","first-page":"309","article-title":"White-to-white corneal diameter: normal values in healthy Iranian population obtained with the Orbscan II","volume":"7","author":"Gharaee","year":"2014","journal-title":"Int. J. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib72","doi-asserted-by":"crossref","first-page":"2124","DOI":"10.1016\/j.ophtha.2014.06.006","article-title":"Personalized diagnosis and management of congenital cataract by next-generation sequencing","volume":"121","author":"Gillespie","year":"2014","journal-title":"Ophthalmology"},{"key":"10.1016\/j.preteyeres.2025.101373_bib73","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pmed.1000177","article-title":"Blindness in childhood in developing countries: time for a reassessment?","volume":"6","author":"Gogate","year":"2009","journal-title":"PLoS Med."},{"key":"10.1016\/j.preteyeres.2025.101373_bib74","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1016\/j.jmb.2004.07.076","article-title":"Aquaporin-0 membrane junctions form upon proteolytic cleavage","volume":"342","author":"Gonen","year":"2004","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib75","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/1471-2121-2-17","article-title":"MP20, the second most abundant lens membrane protein and member of the tetraspanin superfamily, joins the list of ligands of galectin-3","volume":"2","author":"Gonen","year":"2001","journal-title":"BMC Cell Biol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib76","article-title":"The role of genetic modifier in cataract formation caused by Gja3 connexin knockout","volume":"53","author":"Gong","year":"2012","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib77","doi-asserted-by":"crossref","first-page":"5789","DOI":"10.1093\/hmg\/ddv298","article-title":"Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization","volume":"24","author":"Greenlees","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib78","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1016\/j.tig.2013.05.006","article-title":"The genomic determinants of genotype \u00d7 environment interactions in gene expression","volume":"29","author":"Grishkevich","year":"2013","journal-title":"Trends Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib79","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1136\/jmedgenet-2020-107003","article-title":"Assessing performance of pathogenicity predictors using clinically relevant variant datasets","volume":"58","author":"Gunning","year":"2021","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib80","doi-asserted-by":"crossref","first-page":"2398","DOI":"10.1002\/ajmg.a.63355","article-title":"A case of LSS-associated congenital nuclear cataract with hypotrichosis and literature review","volume":"191","author":"Guo","year":"2023","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib81","doi-asserted-by":"crossref","first-page":"2292","DOI":"10.1016\/j.ophtha.2004.06.024","article-title":"A nationwide Danish study of 1027 cases of congenital\/infantile cataracts: etiological and clinical classifications","volume":"111","author":"Haargaard","year":"2004","journal-title":"Ophthalmology"},{"key":"10.1016\/j.preteyeres.2025.101373_bib82","doi-asserted-by":"crossref","first-page":"3067","DOI":"10.1167\/iovs.04-0979","article-title":"Risk factors for idiopathic congenital\/infantile cataract","volume":"46","author":"Haargaard","year":"2005","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib83","doi-asserted-by":"crossref","first-page":"402","DOI":"10.3390\/biom15030402","article-title":"The eye lens protein, \u03b3S crystallin, undergoes glutathionylation-induced disulfide bonding between cysteines 22 and 26","volume":"15","author":"Halverson-Kolkind","year":"2025","journal-title":"Biomolecules"},{"key":"10.1016\/j.preteyeres.2025.101373_bib84","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1136\/jmedgenet-2018-105971","article-title":"Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants","volume":"56","author":"Hanany","year":"2019","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib85","doi-asserted-by":"crossref","first-page":"1290","DOI":"10.1038\/ejhg.2014.21","article-title":"The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract","volume":"22","author":"Hansen","year":"2014","journal-title":"Eur. J. Hum. Genet. : EJHG (Eur. J. Hum. Genet.)"},{"key":"10.1016\/j.preteyeres.2025.101373_bib86","first-page":"1033","article-title":"The congenital \"ant-egg\" cataract phenotype is caused by a missense mutation in connexin46","volume":"12","author":"Hansen","year":"2006","journal-title":"Mol. Vis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib87","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1097\/ICO.0b013e3181a9d0a9","article-title":"White-to-white corneal diameter in the tehran eye study","volume":"29","author":"Hashemi","year":"2010","journal-title":"Cornea"},{"key":"10.1016\/j.preteyeres.2025.101373_bib88","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/bs.pmbts.2015.04.007","article-title":"Lens biology and biochemistry","volume":"134","author":"Hejtmancik","year":"2015","journal-title":"Progress in Molecular Biol. Translational sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib89","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/j.semcdb.2007.10.003","article-title":"Congenital cataracts and their molecular genetics","volume":"19","author":"Hejtmancik","year":"2008","journal-title":"Semin. Cell Dev. Biol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib90","series-title":"Advances in Vision Research, Volume III: Genetic Eye Research Around the Globe","first-page":"303","article-title":"Congenital and inherited cataracts","author":"Hejtmancik","year":"2021"},{"key":"10.1016\/j.preteyeres.2025.101373_bib91","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/bs.pmbts.2015.04.007","article-title":"Lens biology and biochemistry","volume":"134","author":"Hejtmancik","year":"2015","journal-title":"Progress in Molecular Biol. Translational sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib92","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/bs.pmbts.2015.04.006","article-title":"Overview of the lens","volume":"134","author":"Hejtmancik","year":"2015","journal-title":"Progress in Molecular Biol. Translational sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib93","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/s41580-020-0250-z","article-title":"Mechanisms, regulation and functions of the unfolded protein response","volume":"21","author":"Hetz","year":"2020","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib94","doi-asserted-by":"crossref","first-page":"2565","DOI":"10.1016\/j.jcrs.2015.10.008","article-title":"Cataract surgery in the small eye","volume":"41","author":"Hoffman","year":"2015","journal-title":"J. Cataract Refract. Surg."},{"issue":"Pt 2","key":"10.1016\/j.preteyeres.2025.101373_bib95","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1038\/eye.2000.58","article-title":"Requirements for optical services in children with microphthalmos, coloboma and microcornea in southern India","volume":"14","author":"Hornby","year":"2000","journal-title":"Eye (London, England)"},{"key":"10.1016\/j.preteyeres.2025.101373_bib96","doi-asserted-by":"crossref","first-page":"10449","DOI":"10.1073\/pnas.89.21.10449","article-title":"Alpha-crystallin can function as a molecular chaperone","volume":"89","author":"Horwitz","year":"1992","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.preteyeres.2025.101373_bib97","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.2100","article-title":"Nance-Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation","volume":"11","author":"Huang","year":"2023","journal-title":"Mol. Genetics & Genomic Med."},{"key":"10.1016\/j.preteyeres.2025.101373_bib98","doi-asserted-by":"crossref","first-page":"5718","DOI":"10.1128\/MCB.00270-09","article-title":"Overlapping functions of nuclear envelope proteins NET25 (Lem2) and emerin in regulation of extracellular signal-regulated kinase signaling in myoblast differentiation","volume":"29","author":"Huber","year":"2009","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib99","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1016\/j.exer.2006.01.033","article-title":"Role of the unfolded protein response (UPR) in cataract formation","volume":"83","author":"Ikesugi","year":"2006","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.preteyeres.2025.101373_bib100","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1002\/prot.24321","article-title":"Crystal structure of the cataract-causing P23T \u03b3D-crystallin mutant","volume":"81","author":"Ji","year":"2013","journal-title":"Proteins"},{"key":"10.1016\/j.preteyeres.2025.101373_bib101","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1186\/s12967-024-04886-5","article-title":"Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia","volume":"22","author":"Jiang","year":"2024","journal-title":"J. Transl. Med."},{"key":"10.1016\/j.preteyeres.2025.101373_bib102","doi-asserted-by":"crossref","first-page":"2912","DOI":"10.1038\/s41433-024-03176-0","article-title":"Postoperative complications and axial length growth after bilateral congenital cataract surgery: eyes with microphthalmos compared to a comparison group","volume":"38","author":"Jiang","year":"2024","journal-title":"Eye (London, England)"},{"key":"10.1016\/j.preteyeres.2025.101373_bib103","first-page":"14","article-title":"The genetic confirmation and clinical characterization of LOXL3-associated MYP28: a common type of recessive extreme high myopia","volume":"64","author":"Jiang","year":"2023","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib104","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1080\/17469899.2023.2160320","article-title":"Evaluating gap junction variants for a role in pediatric cataract: an overview of the genetic landscape and clinical classification of variants in the GJA3 and GJA8 genes","volume":"18","author":"Jones","year":"2023","journal-title":"Expet Rev. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib105","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000584","article-title":"EPHA2 is associated with age-related cortical cataract in mice and humans","volume":"5","author":"Jun","year":"2009","journal-title":"PLoS Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib106","doi-asserted-by":"crossref","first-page":"2597","DOI":"10.1021\/bi802292q","article-title":"The structure of the cataract-causing P23T mutant of human gammaD-crystallin exhibits distinctive local conformational and dynamic changes","volume":"48","author":"Jung","year":"2009","journal-title":"Biochemistry"},{"key":"10.1016\/j.preteyeres.2025.101373_bib107","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1136\/bjo.58.2.92","article-title":"Retinal detachment after congenital cataract surgery","volume":"58","author":"Kanski","year":"1974","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib108","first-page":"511","article-title":"Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family","volume":"16","author":"Kaul","year":"2010","journal-title":"Mol. Vis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib109","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1080\/13816810.2021.1941128","article-title":"Genetic disease is a common cause of bilateral childhood cataract in Denmark","volume":"42","author":"Kessel","year":"2021","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib110","doi-asserted-by":"crossref","first-page":"2198","DOI":"10.1080\/15548627.2022.2025570","article-title":"The role of FYCO1-dependent autophagy in lens fiber cell differentiation","volume":"18","author":"Khan","year":"2022","journal-title":"Autophagy"},{"key":"10.1016\/j.preteyeres.2025.101373_bib111","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2022.920390","article-title":"Incomplete penetrance and variable expressivity: from clinical studies to population cohorts","volume":"13","author":"Kingdom","year":"2022","journal-title":"Front. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib112","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1111\/j.1755-3768.2009.01633.x","article-title":"Glaucoma in aphakic and pseudophakic eyes following surgery for congenital cataract in the first year of life","volume":"88","author":"Kirwan","year":"2010","journal-title":"Acta Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib113","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1016\/j.ajhg.2007.12.013","article-title":"Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria","volume":"82","author":"Kloeckener-Gruissem","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib114","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/j.febslet.2008.11.047","article-title":"Disulfide cross-links in the interaction of a cataract-linked alphaA-crystallin mutant with betaB1-crystallin","volume":"583","author":"Kumar","year":"2009","journal-title":"FEBS Lett."},{"key":"10.1016\/j.preteyeres.2025.101373_bib115","doi-asserted-by":"crossref","first-page":"6745","DOI":"10.1073\/pnas.82.20.6745","article-title":"Argininosuccinate synthetase: essential role of cysteine and arginine residues in relation to structure and mechanism of ATP activation","volume":"82","author":"Kumar","year":"1985","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.preteyeres.2025.101373_bib116","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1016\/j.bbrc.2009.10.103","article-title":"Intact AQP0 performs cell-to-cell adhesion","volume":"390","author":"Kumari","year":"2009","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.preteyeres.2025.101373_bib117","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1067\/mpa.2001.111015","article-title":"A comparison of grating visual acuity, strabismus, and reoperation outcomes among children with aphakia and pseudophakia after unilateral cataract surgery during the first six months of life","volume":"5","author":"Lambert","year":"2001","journal-title":"J. AAPOS : the off. publication American Association for Pediatric Ophthalmol. Strabismus"},{"key":"10.1016\/j.preteyeres.2025.101373_bib118","doi-asserted-by":"crossref","first-page":"2100","DOI":"10.3390\/genes14112100","article-title":"Statistical dissection of the genetic determinants of phenotypic heterogeneity in genes with multiple associated rare diseases","volume":"14","author":"Lazareva","year":"2023","journal-title":"Genes"},{"key":"10.1016\/j.preteyeres.2025.101373_bib119","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1017\/thg.2013.50","article-title":"Isolated congenital hereditary cataract in a dizygotic twin: prenatal ultrasonographic diagnosis","volume":"16","author":"Lee","year":"2013","journal-title":"Twin Res. Hum. Genet. : the off. J. Int. Soci. Twin Studies"},{"key":"10.1016\/j.preteyeres.2025.101373_bib120","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.preteyeres.2025.101373_bib121","first-page":"2080","article-title":"Development of grating acuity in children treated for unilateral or bilateral congenital cataract","volume":"36","author":"Lewis","year":"1995","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib122","doi-asserted-by":"crossref","DOI":"10.1016\/j.exer.2019.107872","article-title":"Molecular genetics of congenital cataracts","volume":"191","author":"Li","year":"2020","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.preteyeres.2025.101373_bib123","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1167\/iovs.14-14880","article-title":"Evaluation of 12 myopia-associated genes in Chinese patients with high myopia","volume":"56","author":"Li","year":"2015","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib124","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1186\/s13023-021-01873-7","article-title":"Clinical and genetic findings in patients with congenital cataract and heart diseases","volume":"16","author":"Li","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib125","article-title":"Postoperative myopic shift and visual acuity rehabilitation in patients with bilateral congenital cataracts","volume":"11","author":"Lin","year":"2024","journal-title":"Front. Med."},{"key":"10.1016\/j.preteyeres.2025.101373_bib126","doi-asserted-by":"crossref","first-page":"6389","DOI":"10.1167\/iovs.16-20280","article-title":"A novel congenital cataract category system based on lens opacity locations and relevant anterior segment characteristics","volume":"57","author":"Lin","year":"2016","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib127","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1038\/nature17181","article-title":"Lens regeneration using endogenous stem cells with gain of visual function","volume":"531","author":"Lin","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.preteyeres.2025.101373_bib128","doi-asserted-by":"crossref","first-page":"771","DOI":"10.2217\/epi-2019-0254","article-title":"Genome-wide DNA methylation profiles may reveal new possible epigenetic pathogenesis of sporadic congenital cataract","volume":"12","author":"Liu","year":"2020","journal-title":"Epigenomics"},{"key":"10.1016\/j.preteyeres.2025.101373_bib129","doi-asserted-by":"crossref","DOI":"10.1016\/j.preteyeres.2022.101112","article-title":"The lens epithelium as a major determinant in the development, maintenance, and regeneration of the crystalline lens","volume":"92","author":"Liu","year":"2023","journal-title":"Prog. Retin. Eye Res."},{"key":"10.1016\/j.preteyeres.2025.101373_bib130","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1038\/sj.eye.6702845","article-title":"Advances in the management of congenital and infantile cataract","volume":"21","author":"Lloyd","year":"2007","journal-title":"Eye (London, England)"},{"key":"10.1016\/j.preteyeres.2025.101373_bib131","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1167\/tvst.6.6.2","article-title":"Monitoring and morphologic classification of pediatric cataract using slit-lamp-adapted photography","volume":"6","author":"Long","year":"2017","journal-title":"Transl. Vis. Sci. Technol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib132","first-page":"425","volume":"vol. 14","author":"Lou","year":"2025"},{"key":"10.1016\/j.preteyeres.2025.101373_bib133","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ydbio.2005.01.020","article-title":"Growth factor regulation of lens development","volume":"280","author":"Lovicu","year":"2005","journal-title":"Dev. Biol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib134","first-page":"1204","article-title":"Understanding the role of growth factors in embryonic development: insights from the lens","volume":"366","author":"Lovicu","year":"2011","journal-title":"Philos. Trans. R. Soc. Lond. Ser. B Biol. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib135","first-page":"1187","article-title":"Distribution of basal membrane complex components in elongating lens fibers","volume":"14","author":"Lu","year":"2008","journal-title":"Mol. Vis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib136","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1111\/j.1399-0004.1992.tb03634.x","article-title":"Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity","volume":"41","author":"Lund","year":"1992","journal-title":"Clin. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib137","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1002\/humu.22948","article-title":"Sporadic and familial congenital cataracts: mutational spectrum and new diagnoses using next-generation sequencing","volume":"37","author":"Ma","year":"2016","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.preteyeres.2025.101373_bib138","doi-asserted-by":"crossref","first-page":"5369","DOI":"10.1167\/iovs.11-7168","article-title":"Overexpression of human \u03b3C-crystallin 5 bp duplication disrupts lens morphology in transgenic mice","volume":"52","author":"Ma","year":"2011","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib139","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1038\/nature13127","article-title":"Guidelines for investigating causality of sequence variants in human disease","volume":"508","author":"MacArthur","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.preteyeres.2025.101373_bib140","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1126\/science.aac9145","article-title":"Pharmacological chaperone for \u03b1-crystallin partially restores transparency in cataract models","volume":"350","author":"Makley","year":"2015","journal-title":"Science (New York, N.Y.)"},{"key":"10.1016\/j.preteyeres.2025.101373_bib141","doi-asserted-by":"crossref","first-page":"125","DOI":"10.4103\/ijo.IJO_1465_22","article-title":"Cataract surgery outcomes in pediatric patients with systemic comorbidities","volume":"71","author":"Mandal","year":"2023","journal-title":"Indian J. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib142","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1159\/000442500","article-title":"Incidence of and risk factors for postoperative glaucoma and its treatment in paediatric cataract surgery","volume":"57","author":"Mataftsi","year":"2016","journal-title":"Dev. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib143","doi-asserted-by":"crossref","first-page":"2088","DOI":"10.1073\/pnas.0705657105","article-title":"The orphan G protein-coupled receptor, Gpr161, encodes the vacuolated lens locus and controls neurulation and lens development","volume":"105","author":"Matteson","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.preteyeres.2025.101373_bib144","doi-asserted-by":"crossref","first-page":"197","DOI":"10.5694\/mja17.01176","article-title":"Whole genome sequencing provides better diagnostic yield and future value than whole exome sequencing","volume":"209","author":"Mattick","year":"2018","journal-title":"Med. J. Aust."},{"key":"10.1016\/j.preteyeres.2025.101373_bib145","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/j.ajhg.2021.01.001","article-title":"Topologically associating domain boundaries that are stable across diverse cell types are evolutionarily constrained and enriched for heritability","volume":"108","author":"McArthur","year":"2021","journal-title":"Am. J. Hum. Genet."},{"issue":"Pt 3b","key":"10.1016\/j.preteyeres.2025.101373_bib146","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1038\/eye.1999.117","article-title":"Lens development","volume":"13","author":"McAvoy","year":"1999","journal-title":"Eye (London, England)"},{"key":"10.1016\/j.preteyeres.2025.101373_bib147","doi-asserted-by":"crossref","first-page":"16856","DOI":"10.1073\/pnas.0707412104","article-title":"Altered phase diagram due to a single point mutation in human gammaD-crystallin","volume":"104","author":"McManus","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.preteyeres.2025.101373_bib148","doi-asserted-by":"crossref","first-page":"2193","DOI":"10.1002\/dvdy.21924","article-title":"Pitx3 controls multiple aspects of lens development","volume":"238","author":"Medina-Martinez","year":"2009","journal-title":"Dev. Dyn. : an off. publication of the American Association of Anatomists"},{"key":"10.1016\/j.preteyeres.2025.101373_bib149","doi-asserted-by":"crossref","first-page":"7339","DOI":"10.1093\/hmg\/ddv431","article-title":"Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine \u03b2-synthase p.R336C","volume":"24","author":"Mendes","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib150","first-page":"178","article-title":"The etiology of congenital cataracts. A survey of 386 cases","volume":"6","author":"Merin","year":"1971","journal-title":"Can. J. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib151","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1159\/000455752","article-title":"Inherited congenital cataract: a guide to suspect the genetic etiology in the cataract genesis","volume":"8","author":"Messina-Baas","year":"2017","journal-title":"Mol. Syndromol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib152","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1097\/00055735-200106000-00014","article-title":"Natural history of choroidal neovascularization in high myopia","volume":"12","author":"Miller","year":"2001","journal-title":"Curr. Opin. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib153","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1146\/annurev-vision-090721-110411","article-title":"Critical periods in vision revisited","volume":"8","author":"Mitchell","year":"2022","journal-title":"Annual review of vision Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib154","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1042\/BJ20120427","article-title":"Fulfilling the metabolic requirements for cell proliferation","volume":"446","author":"Moncada","year":"2012","journal-title":"Biochem. J."},{"key":"10.1016\/j.preteyeres.2025.101373_bib155","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0037256","article-title":"Cataract-causing defect of a mutant \u03b3-crystallin proceeds through an aggregation pathway which bypasses recognition by the \u03b1-crystallin chaperone","volume":"7","author":"Moreau","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.preteyeres.2025.101373_bib156","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/S1091-8531(97)90006-9","article-title":"Glaucoma and ocular hypertension in pediatric patients with cataracts","volume":"1","author":"Mori","year":"1997","journal-title":"J. AAPOS."},{"key":"10.1016\/j.preteyeres.2025.101373_bib157","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.exer.2015.08.019","article-title":"Autophagy in the lens","volume":"144","author":"Morishita","year":"2016","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.preteyeres.2025.101373_bib158","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1007\/s13353-020-00580-6","article-title":"Genetic modifiers and phenotypic variability in neuromuscular disorders","volume":"61","author":"Mroczek","year":"2020","journal-title":"J. Appl. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib159","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1136\/bjo.84.7.697","article-title":"The lens in hereditary hyperferritinaemia cataract syndrome contains crystalline deposits of L-ferritin","volume":"84","author":"Mumford","year":"2000","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib160","doi-asserted-by":"crossref","first-page":"629","DOI":"10.3390\/pharmaceutics12070629","article-title":"Ophthalmic in situ gelling system containing lanosterol nanoparticles delays collapse of lens structure in shumiya cataract rats","volume":"12","author":"Nagai","year":"2020","journal-title":"Pharmaceutics"},{"key":"10.1016\/j.preteyeres.2025.101373_bib161","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1016\/j.ajhg.2015.03.001","article-title":"Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies","volume":"96","author":"Niceta","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib162","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1111\/j.1755-3768.1979.tb06654.x","article-title":"Ant-egg cataract. A study of a family with dominantly inherited congenital (ant-egg) cataract, including a histological examination of the formed elements","volume":"57","author":"Nissen","year":"1979","journal-title":"Acta Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib163","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1097\/j.jcrs.0000000000001449","article-title":"Ten-year outcomes of congenital cataract surgery performed within the first six months of life","volume":"50","author":"Oshika","year":"2024","journal-title":"J. Cataract Refract. Surg."},{"key":"10.1016\/j.preteyeres.2025.101373_bib164","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.bbagen.2015.06.004","article-title":"Differential role of arginine mutations on the structure and functions of \u03b1-crystallin","volume":"1860","author":"Panda","year":"2016","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.preteyeres.2025.101373_bib165","doi-asserted-by":"crossref","first-page":"4890","DOI":"10.1021\/acs.biochem.5b00185","article-title":"Deamidation of human \u03b3s-crystallin increases attractive protein interactions: implications for cataract","volume":"54","author":"Pande","year":"2015","journal-title":"Biochemistry"},{"key":"10.1016\/j.preteyeres.2025.101373_bib166","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1016\/j.ophtha.2018.12.050","article-title":"The oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders","volume":"126","author":"Patel","year":"2019","journal-title":"Ophthalmology"},{"key":"10.1016\/j.preteyeres.2025.101373_bib167","doi-asserted-by":"crossref","DOI":"10.1590\/1678-4685-gmb-2022-0150","article-title":"Clinical genomics and precision medicine","volume":"45","author":"Pena","year":"2022","journal-title":"Genet. Mol. Biol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib168","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000442495","article-title":"Genetics of congenital cataract","volume":"57","author":"Pichi","year":"2016","journal-title":"Dev. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib169","series-title":"Congenital Cataract: A Concise Guide to Diagnosis and Management","first-page":"173","article-title":"Complications following congenital cataract surgery","author":"Plager","year":"2017"},{"key":"10.1016\/j.preteyeres.2025.101373_bib170","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1016\/S0161-6420(97)30264-4","article-title":"Capsular management and refractive error in pediatric intraocular lenses","volume":"104","author":"Plager","year":"1997","journal-title":"Ophthalmology"},{"key":"10.1016\/j.preteyeres.2025.101373_bib171","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1067\/mpa.2002.121169","article-title":"Complications in the first year following cataract surgery with and without IOL in infants and older children","volume":"6","author":"Plager","year":"2002","journal-title":"J. AAPOS."},{"key":"10.1016\/j.preteyeres.2025.101373_bib172","doi-asserted-by":"crossref","first-page":"1940","DOI":"10.1167\/iovs.03-1117","article-title":"A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts","volume":"45","author":"Pras","year":"2004","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib173","doi-asserted-by":"crossref","first-page":"23750","DOI":"10.1002\/jcp.28943","article-title":"Opacification of lentoid bodies derived from human induced pluripotent stem cells is accelerated by hydrogen peroxide and involves protein aggregation","volume":"234","author":"Qin","year":"2019","journal-title":"J. Cell. Physiol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib174","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbc.2022.102537","article-title":"Insights into the biochemical and biophysical mechanisms mediating the longevity of the transparent optics of the eye lens","volume":"298","author":"Quinlan","year":"2022","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.preteyeres.2025.101373_bib175","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.jaapos.2004.12.013","article-title":"Frequency and predictors of retinal detachment after pediatric cataract surgery without primary intraocular lens implantation","volume":"9","author":"Rabiah","year":"2005","journal-title":"J. AAPOS : the off. publication American Association for Pediatric Ophthalmol. Strabismus"},{"key":"10.1016\/j.preteyeres.2025.101373_bib176","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1006\/bbrc.1998.9242","article-title":"The chaperone-like alpha-crystallin forms a complex only with the aggregation-prone molten globule state of alpha-lactalbumin","volume":"249","author":"Rajaraman","year":"1998","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.preteyeres.2025.101373_bib177","doi-asserted-by":"crossref","first-page":"4552","DOI":"10.1021\/bi027384l","article-title":"Stability, homodimerization, and calcium-binding properties of a single, variant betagamma-crystallin domain of the protein absent in melanoma 1 (AIM1)","volume":"42","author":"Rajini","year":"2003","journal-title":"Biochemistry"},{"key":"10.1016\/j.preteyeres.2025.101373_bib178","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1007\/s10495-009-0341-y","article-title":"Cellular responses to endoplasmic reticulum stress and apoptosis","volume":"14","author":"Rasheva","year":"2009","journal-title":"Apoptosis : an int. J. Programmed Cell Death"},{"key":"10.1016\/j.preteyeres.2025.101373_bib179","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1001\/jamaophthalmol.2021.0385","article-title":"Genetic analysis in a Swiss cohort of bilateral congenital cataract","volume":"139","author":"Rechsteiner","year":"2021","journal-title":"JAMA Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib180","first-page":"1000","article-title":"Dynamics of transport systems in the eye. Friedenwald Lecture","volume":"18","author":"Reddy","year":"1979","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib181","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1007\/s00439-018-1932-x","article-title":"Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes","volume":"138","author":"Reis","year":"2019","journal-title":"Hum. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib182","first-page":"531","article-title":"A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract","volume":"106","author":"Ren","year":"2000","journal-title":"Hum. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib183","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"10.1016\/j.preteyeres.2025.101373_bib184","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1136\/bjo.2003.023275","article-title":"Primary IOL implantation in children: a risk analysis of foldable acrylic v PMMA lenses","volume":"88","author":"Rowe","year":"2004","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib185","doi-asserted-by":"crossref","DOI":"10.1136\/bmjophth-2020-000459","article-title":"The structure of the lens and its associations with the visual quality","volume":"5","author":"Ruan","year":"2020","journal-title":"BMJ open Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib186","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1111\/ceo.12067","article-title":"Incidence and predictors of glaucoma following surgery for congenital cataract in the first year of life in Victoria, Australia","volume":"41","author":"Ruddle","year":"2013","journal-title":"Clin. Exp. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib187","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1016\/j.exer.2003.09.028","article-title":"Bfsp2 mutation found in mouse 129 strains causes the loss of CP49\u2019 and induces vimentin-dependent changes in the lens fibre cell cytoskeleton","volume":"78","author":"Sandilands","year":"2004","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.preteyeres.2025.101373_bib188","doi-asserted-by":"crossref","first-page":"16425","DOI":"10.1074\/jbc.M313402200","article-title":"Binding of destabilized betaB2-crystallin mutants to alpha-crystallin: the role of a folding intermediate","volume":"279","author":"Sathish","year":"2004","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.preteyeres.2025.101373_bib189","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/0002-9394(82)90030-7","article-title":"Long-term visual results in bilateral congenital cataracts","volume":"94","author":"Schulz","year":"1982","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib190","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1016\/S0161-6420(94)31246-2","article-title":"Autosomal dominant congenital cataract. Interocular phenotypic variability","volume":"101","author":"Scott","year":"1994","journal-title":"Ophthalmology"},{"key":"10.1016\/j.preteyeres.2025.101373_bib191","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1038\/527","article-title":"A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD","volume":"19","author":"Semina","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib192","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.76923","article-title":"A native chemical chaperone in the human eye lens","volume":"11","author":"Serebryany","year":"2022","journal-title":"eLife"},{"key":"10.1016\/j.preteyeres.2025.101373_bib193","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.pbiomolbio.2014.05.002","article-title":"The \u03b2\u03b3-crystallins: native state stability and pathways to aggregation","volume":"115","author":"Serebryany","year":"2014","journal-title":"Prog. Biophys. Mol. Biol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib194","doi-asserted-by":"crossref","first-page":"6542","DOI":"10.1038\/s41598-025-90977-2","article-title":"The c.119-123dup5bp mutation in human gammaC-crystallin destabilizes the protein and activates the unfolded protein response to cause highly variable cataracts","volume":"15","author":"Shah","year":"2025","journal-title":"Sci. Rep."},{"key":"10.1016\/j.preteyeres.2025.101373_bib195","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1016\/j.ajhg.2018.02.019","article-title":"Identification of misclassified ClinVar variants via disease population prevalence","volume":"102","author":"Shah","year":"2018","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib196","doi-asserted-by":"crossref","first-page":"785","DOI":"10.3390\/genes15060785","article-title":"Through the cat-map gateway: a brief history of cataract genetics","volume":"15","author":"Shiels","year":"2024","journal-title":"Genes"},{"key":"10.1016\/j.preteyeres.2025.101373_bib197","first-page":"2007","article-title":"Cat-Map: putting cataract on the map","volume":"16","author":"Shiels","year":"2010","journal-title":"Mol. Vis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib198","first-page":"2042","article-title":"The EPHA2 gene is associated with cataracts linked to chromosome 1p","volume":"14","author":"Shiels","year":"2008","journal-title":"Mol. Vis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib199","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1086\/519980","article-title":"CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q","volume":"81","author":"Shiels","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib200","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.exer.2016.06.011","article-title":"Mutations and mechanisms in congenital and age-related cataracts","volume":"156","author":"Shiels","year":"2017","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.preteyeres.2025.101373_bib201","doi-asserted-by":"crossref","DOI":"10.1016\/j.exer.2021.108662","article-title":"Inherited cataracts: genetic mechanisms and pathways new and old","volume":"209","author":"Shiels","year":"2021","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.preteyeres.2025.101373_bib202","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1167\/iovs.06-0947","article-title":"Refractive defects and cataracts in mice lacking lens intrinsic membrane protein-2","volume":"48","author":"Shiels","year":"2007","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib203","series-title":"Pediatric Cataract Surgery and IOL Implantation","first-page":"3","article-title":"Congenital and hereditary cataracts: epidemiology and genetics","author":"Shoshany","year":"2020"},{"key":"10.1016\/j.preteyeres.2025.101373_bib204","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.31729\/jnma.2807","article-title":"Visual Axis opacification in children following paediatric cataract surgery","volume":"52","author":"Shrestha","year":"2014","journal-title":"JNMA J. Nepal Med. Association"},{"key":"10.1016\/j.preteyeres.2025.101373_bib205","doi-asserted-by":"crossref","first-page":"5404","DOI":"10.1074\/jbc.M108073200","article-title":"Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122 --> Cys) that alters autoactivation and autodegradation of cationic trypsinogen","volume":"277","author":"Simon","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.preteyeres.2025.101373_bib206","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1002\/pro.2229","article-title":"Evolution of crystallins for a role in the vertebrate eye lens","volume":"22","author":"Slingsby","year":"2013","journal-title":"Protein Sci. : a publication of the Protein Society"},{"key":"10.1016\/j.preteyeres.2025.101373_bib207","doi-asserted-by":"crossref","first-page":"E1","DOI":"10.1038\/nature26148","article-title":"Improving outcomes in congenital cataract","volume":"556","author":"Solebo","year":"2018","journal-title":"Nature"},{"key":"10.1016\/j.preteyeres.2025.101373_bib208","doi-asserted-by":"crossref","first-page":"1837","DOI":"10.1172\/JCI38277","article-title":"Functions of the intermediate filament cytoskeleton in the eye lens","volume":"119","author":"Song","year":"2009","journal-title":"J. Clin. Investig."},{"key":"10.1016\/j.preteyeres.2025.101373_bib209","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1515\/hsz-2013-0174","article-title":"Stressed to death - mechanisms of ER stress-induced cell death","volume":"395","author":"Sovolyova","year":"2014","journal-title":"Biol. Chem."},{"key":"10.1016\/j.preteyeres.2025.101373_bib210","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1038\/s41576-018-0007-0","article-title":"Structural variation in the 3D genome","volume":"19","author":"Spielmann","year":"2018","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib211","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1146\/annurev-physchem-090419-121428","article-title":"\u03b1-Crystallins in the vertebrate eye lens: complex oligomers and molecular chaperones","volume":"72","author":"Sprague-Piercy","year":"2021","journal-title":"Annu. Rev. Phys. Chem."},{"key":"10.1016\/j.preteyeres.2025.101373_bib212","series-title":"Pediatric Cataract : for Every Ophthalmologist","first-page":"37","article-title":"Etiology of pediatric cataract","author":"Srivastava","year":"2021"},{"key":"10.1016\/j.preteyeres.2025.101373_bib213","doi-asserted-by":"crossref","first-page":"73","DOI":"10.3928\/0191-3913-20020301-05","article-title":"Long-term rates of PCO following small incision foldable acrylic intraocular lens implantation in children","volume":"39","author":"Stager","year":"2002","journal-title":"J. Pediatr. Ophthalmol. Strabismus"},{"key":"10.1016\/j.preteyeres.2025.101373_bib214","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1038\/ng0795-307","article-title":"Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts","volume":"10","author":"Stambolian","year":"1995","journal-title":"Nat. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib215","doi-asserted-by":"crossref","first-page":"191","DOI":"10.4161\/org.7.3.18421","article-title":"Planar cell polarity in the mammalian eye lens","volume":"7","author":"Sugiyama","year":"2011","journal-title":"Organogenesis"},{"key":"10.1016\/j.preteyeres.2025.101373_bib216","doi-asserted-by":"crossref","first-page":"2210","DOI":"10.1016\/j.jcrs.2012.10.020","article-title":"Pediatric traumatic cataract: maximizing the surgical outcome","volume":"38","author":"Sukhija","year":"2012","journal-title":"J. Cataract Refract. Surg."},{"key":"10.1016\/j.preteyeres.2025.101373_bib217","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1002\/humu.23696","article-title":"A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract","volume":"40","author":"Sun","year":"2019","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.preteyeres.2025.101373_bib218","doi-asserted-by":"crossref","first-page":"8365","DOI":"10.1167\/iovs.15-17555","article-title":"Exome sequencing on 298 probands with early-onset high myopia: approximately one-fourth show potential pathogenic mutations in RetNet genes","volume":"56","author":"Sun","year":"2015","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib219","first-page":"2197","article-title":"Mutation analysis of 12 genes in Chinese families with congenital cataracts","volume":"17","author":"Sun","year":"2011","journal-title":"Mol. Vis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib220","first-page":"1508","article-title":"Mutational screening of six genes in Chinese patients with congenital cataract and microcornea","volume":"17","author":"Sun","year":"2011","journal-title":"Mol. Vis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib221","article-title":"Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene","volume":"9","author":"Sun","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.preteyeres.2025.101373_bib222","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1111\/ceo.13810","article-title":"Novel missense mutation of major intrinsic protein gene in congenital cataract","volume":"48","author":"Sun","year":"2020","journal-title":"Clin. Exp. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib223","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0033001","article-title":"EPHA2 polymorphisms and age-related cataract in India","volume":"7","author":"Sundaresan","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.preteyeres.2025.101373_bib224","first-page":"1553","article-title":"Association of EPHA2 polymorphisms and age-related cortical cataract in a Han Chinese population","volume":"17","author":"Tan","year":"2011","journal-title":"Mol. Vis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib225","first-page":"107","article-title":"Congenital cataract and its genetics: the Era of next-generation sequencing","volume":"51","author":"Taylan \u015eekero\u011flu","year":"2021","journal-title":"Turkish J. Orthod."},{"key":"10.1016\/j.preteyeres.2025.101373_bib226","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1136\/adc.57.3.165","article-title":"Congenital cataract, a cause of preventable child blindness","volume":"57","author":"Taylor","year":"1982","journal-title":"Arch. Dis. Child."},{"issue":"Pt 1","key":"10.1016\/j.preteyeres.2025.101373_bib227","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1242\/jcs.103.1.245","article-title":"The distribution of the fiber cell intrinsic membrane proteins MP20 and connexin46 in the bovine lens","volume":"103","author":"Tenbroek","year":"1992","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib228","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1134\/S0006297917020031","article-title":"\u03b1-Crystallins are small heat shock proteins: functional and structural properties","volume":"82","author":"Tikhomirova","year":"2017","journal-title":"Biochemistry. Biokhimiia"},{"key":"10.1016\/j.preteyeres.2025.101373_bib229","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1097\/ICU.0b013e32834994dc","article-title":"Evaluation of pediatric cataracts and systemic disorders","volume":"22","author":"Trumler","year":"2011","journal-title":"Curr. Opin. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib230","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1007\/s10384-009-0724-1","article-title":"Estimation of heritability in myopic twin studies","volume":"53","author":"Tsai","year":"2009","journal-title":"Jpn. J. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib231","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1042\/EBC20190053","article-title":"Mechanisms and consequences of protein cysteine oxidation: the role of the initial short-lived intermediates","volume":"64","author":"Turell","year":"2020","journal-title":"Essays Biochem."},{"key":"10.1016\/j.preteyeres.2025.101373_bib232","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1093\/rheumatology\/kev439","article-title":"Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations","volume":"55","author":"Van Montfrans","year":"2016","journal-title":"Rheumatology (Oxford, England)"},{"key":"10.1016\/j.preteyeres.2025.101373_bib233","doi-asserted-by":"crossref","first-page":"1393","DOI":"10.1167\/iovs.04-1217","article-title":"Regulation of aquaporin water permeability in the lens","volume":"46","author":"Varadaraj","year":"2005","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib234","doi-asserted-by":"crossref","first-page":"2097","DOI":"10.1016\/j.jcrs.2004.02.076","article-title":"Morphology of and visual performance with posterior subcapsular cataract","volume":"30","author":"Vasavada","year":"2004","journal-title":"J. Cataract Refract. Surg."},{"key":"10.1016\/j.preteyeres.2025.101373_bib235","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.jcrs.2010.10.036","article-title":"Posterior capsule management in congenital cataract surgery","volume":"37","author":"Vasavada","year":"2011","journal-title":"J. Cataract Refract. Surg."},{"key":"10.1016\/j.preteyeres.2025.101373_bib236","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/j.bbagen.2015.06.007","article-title":"Gamma crystallins of the human eye lens","volume":"1860","author":"Vendra","year":"2016","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.preteyeres.2025.101373_bib237","series-title":"Methods in Enzymology","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/bs.mie.2014.12.006","article-title":"Chapter twenty-three - major intrinsic protein superfamily: channels with unique structural features and diverse selectivity filters","author":"Verma","year":"2015"},{"key":"10.1016\/j.preteyeres.2025.101373_bib238","doi-asserted-by":"crossref","first-page":"R72","DOI":"10.1186\/gb-2003-4-11-r72","article-title":"The amino-acid mutational spectrum of human genetic disease","volume":"4","author":"Vitkup","year":"2003","journal-title":"Genome Biol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib239","first-page":"19","article-title":"Whole-genome sequencing holds the key to the success of gene-targeted therapies. American journal of medical genetics. Part C","volume":"193","author":"Vockley","year":"2023","journal-title":"Seminars in Med. Genetics"},{"key":"10.1016\/j.preteyeres.2025.101373_bib240","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1538\/expanim.19-0020","article-title":"Genetic modifiers of rodent animal models: the role in cataractogenesis","volume":"68","author":"Wada","year":"2019","journal-title":"Exp. Anim."},{"key":"10.1016\/j.preteyeres.2025.101373_bib241","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1136\/jmg-2023-109488","article-title":"Variant reclassification and clinical implications","volume":"61","author":"Walsh","year":"2024","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib242","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1373\/clinchem.2013.215947","article-title":"When a \"disease-causing mutation\" is not a pathogenic variant","volume":"60","author":"Wang","year":"2014","journal-title":"Clin. Chem."},{"key":"10.1016\/j.preteyeres.2025.101373_bib243","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1167\/iovs.63.5.19","article-title":"Autosomal dominant retinitis pigmentosa-associated TOPORS protein truncating variants are exclusively located in the region of amino acid residues 807 to 867","volume":"63","author":"Wang","year":"2022","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib244","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1186\/s13023-023-02816-0","article-title":"Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene","volume":"18","author":"Wang","year":"2023","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib245","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1167\/tvst.8.2.21","article-title":"An ophthalmic targeted exome sequencing panel as a powerful tool to identify causative mutations in patients suspected of hereditary eye diseases","volume":"8","author":"Wang","year":"2019","journal-title":"Transl. Vis. Sci. Technol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib246","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.ajo.2023.10.022","article-title":"Early diagnosis of syndromic congenital cataracts in a large cohort of congenital cataracts","volume":"263","author":"Wang","year":"2024","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib247","doi-asserted-by":"crossref","first-page":"1196","DOI":"10.1016\/j.ophtha.2024.05.011","article-title":"Complications, visual acuity, and refractive error 3 Years after secondary intraocular lens implantation for pediatric aphakia","volume":"131","author":"Wang","year":"2024","journal-title":"Ophthalmology"},{"key":"10.1016\/j.preteyeres.2025.101373_bib248","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1007\/s10571-016-0447-z","article-title":"The role of DNA methylation in lens development and cataract formation","volume":"37","author":"Wang","year":"2017","journal-title":"Cell. Mol. Neurobiol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib249","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1167\/iovs.64.4.29","article-title":"Unique haplotypes in OPN1LW as a common cause of high myopia with or without protanopia: a potential window into myopic mechanism","volume":"64","author":"Wang","year":"2023","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib250","doi-asserted-by":"crossref","first-page":"1545","DOI":"10.1136\/bjo-2022-321511","article-title":"Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance","volume":"107","author":"Wang","year":"2023","journal-title":"Br. J. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib251","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.ajhg.2021.12.006","article-title":"The genetic architecture of pediatric cardiomyopathy","volume":"109","author":"Ware","year":"2022","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib252","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1001\/archopht.1989.01070020703032","article-title":"Simple microphthalmos","volume":"107","author":"Weiss","year":"1989","journal-title":"Arch. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib253","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/S0022-2836(83)80232-0","article-title":"X-ray analysis of the eye lens protein gamma-II crystallin at 1.9 A resolution","volume":"170","author":"Wistow","year":"1983","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib254","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1146\/annurev.bi.57.070188.002403","article-title":"Lens crystallins: the evolution and expression of proteins for a highly specialized tissue","volume":"57","author":"Wistow","year":"1988","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.preteyeres.2025.101373_bib255","doi-asserted-by":"crossref","first-page":"1229","DOI":"10.1016\/j.ajhg.2023.06.009","article-title":"Beyond the exome: what's next in diagnostic testing for Mendelian conditions","volume":"110","author":"Wojcik","year":"2023","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib256","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1038\/eye.2016.131","article-title":"Secondary intraocular lens implantation following infantile cataract surgery: intraoperative indications, postoperative outcomes","volume":"30","author":"Wood","year":"2016","journal-title":"Eye (London, England)"},{"key":"10.1016\/j.preteyeres.2025.101373_bib257","first-page":"2049","article-title":"Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP","volume":"17","author":"Xiao","year":"2011","journal-title":"Mol. Vis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib258","doi-asserted-by":"crossref","first-page":"1552","DOI":"10.21037\/atm-20-1960","article-title":"Advances in pharmacotherapy of cataracts","volume":"8","author":"Xu","year":"2020","journal-title":"Ann. Transl. Med."},{"key":"10.1016\/j.preteyeres.2025.101373_bib259","doi-asserted-by":"crossref","first-page":"3385","DOI":"10.1007\/s00417-024-06546-2","article-title":"Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations","volume":"262","author":"Yahalom","year":"2024","journal-title":"Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie"},{"key":"10.1016\/j.preteyeres.2025.101373_bib260","article-title":"Novel mutations in CRYGD are associated with congenital cataracts in Chinese families","volume":"6","author":"Yang","year":"2016","journal-title":"Sci. Rep."},{"key":"10.1016\/j.preteyeres.2025.101373_bib261","first-page":"1085","article-title":"A recurrent mutation in CRYGD is associated with autosomal dominant congenital coralliform cataract in two unrelated Chinese families","volume":"17","author":"Yang","year":"2011","journal-title":"Mol. Vis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib262","first-page":"29","article-title":"Quantitative metabolomic analysis of changes in the lens and aqueous humor under development of age-related nuclear cataract. Metabolomics","volume":"15","author":"Yanshole","year":"2019","journal-title":"Off. J. Metabolomic Society"},{"key":"10.1016\/j.preteyeres.2025.101373_bib263","doi-asserted-by":"crossref","first-page":"1494","DOI":"10.1097\/00029330-200709010-00006","article-title":"Long-term visual outcome of dense bilateral congenital cataract","volume":"120","author":"Ye","year":"2007","journal-title":"Chinese Med. J."},{"key":"10.1016\/j.preteyeres.2025.101373_bib264","first-page":"422","article-title":"Epidemiology and molecular genetics of congenital cataracts","volume":"4","author":"Yi","year":"2011","journal-title":"Int. J. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib265","doi-asserted-by":"crossref","DOI":"10.1016\/j.exer.2019.107846","article-title":"Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis","volume":"189","author":"Yi","year":"2019","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.preteyeres.2025.101373_bib266","doi-asserted-by":"crossref","DOI":"10.1155\/2023\/5964723","article-title":"Cysteine pathogenic variants of PMM2 are sensitive to environmental stress with loss of structural stability","volume":"2023","author":"Yu","year":"2023","journal-title":"Oxid. Med. Cell. Longev."},{"key":"10.1016\/j.preteyeres.2025.101373_bib267","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1242\/jcs.00945","article-title":"Interaction of major intrinsic protein (aquaporin-0) with fiber connexins in lens development","volume":"117","author":"Yu","year":"2004","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.preteyeres.2025.101373_bib268","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.a.63504","article-title":"A novel single-base deletional mutation of MIP impairs protein distribution and cell-to-cell adhesion in autosomal dominant cataracts in a Chinese family","volume":"194","author":"Yu","year":"2024","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.preteyeres.2025.101373_bib269","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1016\/j.jcrs.2005.01.012","article-title":"Cataracts in children","volume":"31","author":"Zetterstr\u00f6m","year":"2005","journal-title":"J. Cataract Refract. Surg."},{"key":"10.1016\/j.preteyeres.2025.101373_bib270","first-page":"1626","article-title":"Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family","volume":"12","author":"Zhang","year":"2006","journal-title":"Mol. Vis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib271","first-page":"890","article-title":"Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family","volume":"10","author":"Zhang","year":"2004","journal-title":"Mol. Vis."},{"key":"10.1016\/j.preteyeres.2025.101373_bib272","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1038\/nature14650","article-title":"Lanosterol reverses protein aggregation in cataracts","volume":"523","author":"Zhao","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.preteyeres.2025.101373_bib273","doi-asserted-by":"crossref","DOI":"10.1016\/j.exer.2024.110220","article-title":"SP1\/COL1A2\/ZEB1 axis promotes TGF-\u03b22-induced lens epithelial cell proliferation, migration, invasion and EMT process","volume":"251","author":"Zhao","year":"2025","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.preteyeres.2025.101373_bib274","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.876","article-title":"Whole-genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome","volume":"7","author":"Zheng","year":"2019","journal-title":"Mol. Genetics & Genomic Med."},{"key":"10.1016\/j.preteyeres.2025.101373_bib275","series-title":"Loss of Vision","article-title":"Cataract surgery in microphthalmic eyes","author":"Zheng","year":"2023"},{"key":"10.1016\/j.preteyeres.2025.101373_bib276","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1093\/brain\/awae324","article-title":"Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes","volume":"148","author":"Zheng","year":"2024","journal-title":"Brain"},{"key":"10.1016\/j.preteyeres.2025.101373_bib277","doi-asserted-by":"crossref","first-page":"Np12","DOI":"10.1177\/11206721231163611","article-title":"Microphthalmia and anterior segment dysgenesis due to a double gene variant in GJA8 and CRYGC","volume":"34","author":"Zhou","year":"2024","journal-title":"Eur. J. Ophthalmol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib278","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.exer.2018.02.007","article-title":"Frequent mutations of RetNet genes in eoHM: further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing","volume":"171","author":"Zhou","year":"2018","journal-title":"Exp. Eye Res."},{"key":"10.1016\/j.preteyeres.2025.101373_bib279","doi-asserted-by":"crossref","DOI":"10.1096\/fj.202002037R","article-title":"Mutation of the TRPM3 cation channel underlies progressive cataract development and lens calcification associated with pro-fibrotic and immune cell responses","volume":"35","author":"Zhou","year":"2021","journal-title":"FASEB J. : off. publication of the Federation of American Societies for Experimental Biol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib280","doi-asserted-by":"crossref","DOI":"10.1096\/fj.202201368RR","article-title":"Charged multivesicular body protein 4b forms complexes with gap junction proteins during lens fiber cell differentiation","volume":"37","author":"Zhou","year":"2023","journal-title":"FASEB J. : off. publication of the Federation of American Societies for Experimental Biol."},{"key":"10.1016\/j.preteyeres.2025.101373_bib281","doi-asserted-by":"crossref","DOI":"10.1016\/j.xops.2021.100093","article-title":"A novel mutation in CRYGC mutation associated with autosomal dominant congenital cataracts and microcornea","volume":"2","author":"Zhou","year":"2022","journal-title":"Ophthalmol. Sci."}],"container-title":["Progress in Retinal and Eye Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1350946225000461?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1350946225000461?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T06:31:28Z","timestamp":1760855488000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1350946225000461"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":281,"alternative-id":["S1350946225000461"],"URL":"https:\/\/doi.org\/10.1016\/j.preteyeres.2025.101373","relation":{},"ISSN":["1350-9462"],"issn-type":[{"value":"1350-9462","type":"print"}],"subject":[],"published":{"date-parts":[[2025,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes","name":"articletitle","label":"Article Title"},{"value":"Progress in Retinal and Eye Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.preteyeres.2025.101373","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Elsevier Ltd. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"101373"}}