{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T01:40:03Z","timestamp":1790127603442,"version":"4.0.1"},"reference-count":65,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2021,12,21]],"date-time":"2021-12-21T00:00:00Z","timestamp":1640044800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Childhood glaucoma is a heterogeneous disease and can be associated with various genetic alterations. The aim of this study was to report first results of the phenotype\u2013genotype relationship in a German childhood glaucoma cohort. Forty-nine eyes of 29 children diagnosed with childhood glaucoma were prospectively included in the registry. Besides medical history, non-genetic risk factor anamnesis and examination results, genetic examination report was obtained (23 cases). DNA from peripheral blood or buccal swab was used for molecular genetic analysis using a specific glaucoma gene panel. Primary endpoint was the distribution of causative genetic mutations and associated disorders. Median age was 1.8 (IQR 0.6; 3.8) years, 64% participants were female. Secondary childhood glaucoma (55%) was more common than primary childhood glaucoma (41%). In 14%, parental consanguinity was indicated. A mutation was found in all these cases, which makes consanguinity an important risk factor for genetic causes in childhood glaucoma. CYP1B1 (30%) and TEK (10%) mutations were found in primary childhood glaucoma patients. In secondary childhood glaucoma cases, alterations in CYP1B1 (25%), SOX11 (13%), FOXC1 (13%), GJA8 (13%) and LTBP2 (13%) were detected. Congenital cataract was associated with variants in FYCO1 and CRYBB3 (25% each), and one case of primary megalocornea with a CHRDL1 aberration. Novel variants of causative genetic mutations were found. Distribution of childhood glaucoma types and causative genes was comparable to previous investigated cohorts. This is the first prospective study using standardized forms to determine phenotypes and non-genetic factors in childhood glaucoma with the aim to evaluate their association with genotypes in childhood glaucoma.<\/jats:p>","DOI":"10.3390\/jcm11010016","type":"journal-article","created":{"date-parts":[[2021,12,21]],"date-time":"2021-12-21T09:50:43Z","timestamp":1640080243000},"page":"16","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype\u2013Genotype Association"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9684-7753","authenticated-orcid":false,"given":"Julia V.","family":"Stingl","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Diederich","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi","family":"Diel","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander K.","family":"Schuster","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9560-0524","authenticated-orcid":false,"given":"Felix M.","family":"Wagner","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Panagiotis","family":"Chronopoulos","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fidan","family":"Aghayeva","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany"},{"name":"National Centre of Ophthalmology Named after Academician Zarifa Aliyeva, Baku AZ1114, Azerbaijan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franz","family":"Grehn","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Winter","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susann","family":"Schweiger","sequence":"additional","affiliation":[{"name":"Institute for Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther M.","family":"Hoffmann","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,12,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1097\/ICU.0000000000000516","article-title":"New classification system for pediatric glaucoma: Implications for clinical care and a research registry","volume":"29","author":"Thau","year":"2018","journal-title":"Curr. Opin. Ophthalmol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"4100","DOI":"10.1167\/iovs.06-1350","article-title":"The British Infantile and Childhood Glaucoma (BIG) Eye Study","volume":"48","author":"Papadopoulos","year":"2007","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1111\/aos.14207","article-title":"Primary congenital glaucoma in Denmark, 1977\u20132016","volume":"98","author":"Pedersen","year":"2020","journal-title":"Acta Ophthalmol."},{"key":"ref_4","first-page":"15","article-title":"Care of the infantile glaucoma patient","volume":"7","author":"Jaafar","year":"1988","journal-title":"Ophthalmol. Annu."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1007\/BF00296440","article-title":"Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset","volume":"61","author":"Gencik","year":"1982","journal-title":"Hum. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1038\/eye.2000.126","article-title":"Molecular genetics of primary congenital glaucoma","volume":"14","author":"Sarfarazi","year":"2000","journal-title":"Eye"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"968","DOI":"10.3892\/etm.2020.8767","article-title":"Updates on the molecular genetics of primary congenital glaucoma (Review)","volume":"20","author":"Ling","year":"2020","journal-title":"Exp. Ther. Med."},{"key":"ref_8","unstructured":"Weinreb, R.N., Grajewski, A.L., Papadopoulos, M., Grigg, J., and Freedman, S. (2013). Childhood Glaucoma. The 9th Consensus Report of the World Glaucoma Association, Kugler Publications."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1080\/13816810.2018.1546405","article-title":"Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients","volume":"39","author":"Svidnicki","year":"2018","journal-title":"Ophthalmic Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1093\/hmg\/ddx184","article-title":"Genetics of glaucoma","volume":"26","author":"Wiggs","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1167\/iovs.06-0472","article-title":"Genotype-Phenotype Correlations in Axenfeld-Rieger Malformation and Glaucoma Patients with FOXC1 and PITX2 Mutations","volume":"48","author":"Strungaru","year":"2007","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"107815","DOI":"10.1016\/j.exer.2019.107815","article-title":"Aniridia and Axenfeld-Rieger Syndrome: Clinical presentations, molecular genetics and current\/emerging therapies","volume":"189","author":"Chrystal","year":"2019","journal-title":"Exp. Eye Res."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1111\/cge.13148","article-title":"Axenfeld-Rieger syndrome","volume":"93","author":"Seifi","year":"2018","journal-title":"Clin. Genet."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1038\/ejhg.2017.59","article-title":"Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants","volume":"25","author":"Souzeau","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1097\/ICU.0000000000000405","article-title":"PAX6 aniridia syndrome: Clinics, genetics, and therapeutics","volume":"28","author":"Lim","year":"2017","journal-title":"Curr. Opin. Ophthalmol."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Hoffmann, E.M., Aghayeva, F., Schuster, A.K., Pfeiffer, N., Karsten, M., Schweiger, S., Pirlich, N., Wagner, F.M., Chronopoulos, P., and Grehn, F. (2021). Results of childhood glaucoma surgery over a long-term period. Acta Ophthalmol.","DOI":"10.1111\/aos.14985"},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Diel, H., Ding, C., Grehn, F., Chronopoulos, P., Bartsch, O., and Hoffmann, E.M. (2021). First observation of secondary childhood glaucoma in Coffin-Siris syndrome: A case report and literature review. BMC Ophthalmol., 21.","DOI":"10.1186\/s12886-020-01788-0"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"474","DOI":"10.5301\/ejo.5000618","article-title":"CYP1B1 gene analysis and phenotypic correlation in Portuguese children with primary congenital glaucoma","volume":"25","author":"Cardoso","year":"2015","journal-title":"Eur. J. Ophthalmol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1001\/jamaophthalmol.2015.0980","article-title":"Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma with Advanced Visual Field Loss","volume":"133","author":"Souzeau","year":"2015","journal-title":"JAMA Ophthalmol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"382","DOI":"10.2353\/jmoldx.2007.060157","article-title":"CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes","volume":"9","author":"Chitsazian","year":"2007","journal-title":"J. Mol. Diagn."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1007\/s00439-017-1823-6","article-title":"Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma","volume":"136","author":"Kabra","year":"2017","journal-title":"Hum. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1086\/301764","article-title":"Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1","volume":"62","author":"Stoilov","year":"1998","journal-title":"Am. J. Hum. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1038\/ejhg.2012.80","article-title":"PITX2 and FOXC1 spectrum of mutations in ocular syndromes","volume":"20","author":"Reis","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1111\/cge.13045","article-title":"New mutations in GJA8 expand the phenotype to include total sclerocornea","volume":"93","author":"Ma","year":"2018","journal-title":"Clin. Genet."},{"key":"ref_25","first-page":"589","article-title":"Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population","volume":"22","author":"Li","year":"2016","journal-title":"Mol. Vis."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1549","DOI":"10.1016\/j.ophtha.2021.04.016","article-title":"Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry","volume":"128","author":"Knight","year":"2021","journal-title":"Ophthalmology"},{"key":"ref_27","first-page":"2911","article-title":"Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: Genotype-phenotype correlation","volume":"17","author":"Osman","year":"2011","journal-title":"Mol. Vis."},{"key":"ref_28","first-page":"1215","article-title":"Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: Three novel mutations in CYP1B1","volume":"16","author":"Hilal","year":"2010","journal-title":"Mol. Vis."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1097\/IJG.0b013e31829f99b7","article-title":"Genotype-phenotype correlation in Moroccan patients with primary congenital glaucoma","volume":"24","author":"Berraho","year":"2015","journal-title":"J. Glaucoma"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1136\/bjophthalmol-2013-303821","article-title":"CYP1B1 genotype influences the phenotype in primary congenital glaucoma and surgical treatment","volume":"98","author":"Chen","year":"2014","journal-title":"Br. J. Ophthalmol."},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"de Melo, M.B., Mandal, A.K., Tavares, I.M., Ali, M.H., Kabra, M., de Vasconcellos, J.P., Senthil, S., Sallum, J.M., Kaur, I., and Betinjane, A.J. (2015). Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0127147"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1097\/IJG.0000000000000206","article-title":"Phenotype and Genotype Correlation in Iranian Primary Congenital Glaucoma Patients","volume":"25","author":"Yazdani","year":"2016","journal-title":"J. Glaucoma"},{"key":"ref_33","first-page":"31","article-title":"Genotype\/Phenotype Correlation in Primary Congenital Glaucoma Patients in the Lebanese Population: A Pilot Study","volume":"37","author":"Abdulaal","year":"2016","journal-title":"Ophthalmic Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1016\/j.ajo.2006.07.054","article-title":"Genotype and phenotype correlations in congenital glaucoma: CYP1B1 mutations, goniodysgenesis, and clinical characteristics","volume":"142","author":"Hollander","year":"2006","journal-title":"Am. J. Ophthalmol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.ajo.2010.08.038","article-title":"Genotype\/phenotype correlation in primary congenital glaucoma patients from different ethnic groups of the Israeli population","volume":"151","author":"Geyer","year":"2011","journal-title":"Am. J. Ophthalmol."},{"key":"ref_36","first-page":"991","article-title":"Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: Novel variants and genotype-phenotype correlations","volume":"20","author":"Sheikh","year":"2014","journal-title":"Mol. Vis."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1167\/iovs.03-0404","article-title":"Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma","volume":"45","author":"Panicker","year":"2004","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1097\/IJG.0000000000001132","article-title":"CYP1B1 Gene and Phenotypic Correlation in Patients from Northeastern Brazil with Primary Congenital Glaucoma","volume":"28","author":"Sena","year":"2019","journal-title":"J. Glaucoma"},{"key":"ref_39","first-page":"607","article-title":"Novel CYP1B1 mutations and a possible prognostic use for surgical management of congenital glaucoma","volume":"12","author":"Khafagy","year":"2019","journal-title":"Int. J. Ophthalmol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1080\/02713683.2018.1493129","article-title":"Mutation Survey of Candidate Genes and Genotype\u2013Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld\u2013Rieger Syndrome","volume":"43","author":"Wang","year":"2018","journal-title":"Curr. Eye Res."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1136\/jmedgenet-2019-106172","article-title":"Analysis of genotype\u2013phenotype correlations in PAX6-associated aniridia","volume":"58","author":"Vasilyeva","year":"2021","journal-title":"J. Med. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"118","DOI":"10.4103\/0301-4738.179716","article-title":"A retrospective survey of childhood glaucoma prevalence according to Childhood Glaucoma Research Network classification","volume":"64","author":"Hoguet","year":"2016","journal-title":"Indian J. Ophthalmol."},{"key":"ref_43","first-page":"674","article-title":"Childhood glaucoma profile in Dakahelia, Egypt: A retrospective study","volume":"11","author":"Mokbel","year":"2018","journal-title":"Int. J. Ophthalmol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"358","DOI":"10.4103\/ijo.IJO_786_18","article-title":"Profile of childhood glaucoma at a tertiary center in South India","volume":"67","author":"Senthil","year":"2019","journal-title":"Indian J. Ophthalmol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1097\/IJG.0000000000001712","article-title":"Childhood Glaucoma Profile in a Brazilian Tertiary Care Center Using Childhood Glaucoma Research Network Classification","volume":"30","author":"Lopes","year":"2021","journal-title":"J. Glaucoma"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1097\/IJG.0000000000001259","article-title":"Prevalence and Clinical Characteristics of Childhood Glaucoma at a Tertiary Care Children\u2019s Hospital","volume":"28","author":"Bouhenni","year":"2019","journal-title":"J. Glaucoma"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1136\/bjo.87.3.302","article-title":"Phenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma","volume":"87","author":"Ohtake","year":"2003","journal-title":"Br. J. Ophthalmol."},{"key":"ref_48","first-page":"75","article-title":"Sex Bias in Primary Congenital Glaucoma Patients with and without CYP1B1 Mutations","volume":"4","author":"Suri","year":"2009","journal-title":"J. Ophthalmic Vis. Res."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"2565","DOI":"10.1007\/s10792-021-01815-z","article-title":"Genetic analysis of patients with primary congenital glaucoma","volume":"41","author":"Ava","year":"2021","journal-title":"Int. Ophthalmol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.exer.2005.04.016","article-title":"Immunolocalization of CYP1B1 in normal, human, fetal and adult eyes","volume":"82","author":"Doshi","year":"2006","journal-title":"Exp. Eye Res."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"2575","DOI":"10.1172\/JCI85830","article-title":"Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity","volume":"126","author":"Souma","year":"2016","journal-title":"J. Clin. Investig."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1080\/13816810490902648","article-title":"Molecular basis of Peters anomaly in Saudi Arabia","volume":"25","author":"Edward","year":"2004","journal-title":"Ophthalmic Genet."},{"key":"ref_53","first-page":"506","article-title":"Further support of the role of CYP1B1 in patients with Peters anomaly","volume":"12","author":"Vincent","year":"2006","journal-title":"Mol. Vis."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1007\/s00439-018-1935-7","article-title":"Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis","volume":"138","author":"Ma","year":"2019","journal-title":"Hum. Genet."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"1421","DOI":"10.1136\/bjo.85.12.1421","article-title":"Histopathological examination of two cases of anterior staphyloma associated with Peters\u2019 anomaly and persistent hyperplastic primary vitreous","volume":"85","author":"Matsubara","year":"2001","journal-title":"Br. J. Ophthalmol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"107893","DOI":"10.1016\/j.exer.2019.107893","article-title":"Childhood glaucoma genes and phenotypes: Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss","volume":"190","author":"Gauthier","year":"2020","journal-title":"Exp. Eye Res."},{"key":"ref_57","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Mirzaa, G., and Amemiya, A. (2021, December 16). Weill-Marchesani Syndrome, GeneReviews(\u00ae), Available online: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1114\/."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.matbio.2019.11.001","article-title":"A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix","volume":"88","author":"Karoulias","year":"2020","journal-title":"Matrix Biol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/j.exer.2008.03.004","article-title":"Anterior segment dysgenesis in the eyes of mice deficient for the high-mobility-group transcription factor Sox11","volume":"86","author":"Wurm","year":"2008","journal-title":"Exp. Eye Res."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1056\/NEJMoa1213507","article-title":"Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ","volume":"368","author":"Shirley","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"ref_61","doi-asserted-by":"crossref","unstructured":"Nguyen, V., Hochman, M., Mihm, M.C., Nelson, J.S., and Tan, W. (2019). The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20092243"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"107872","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":"ref_63","doi-asserted-by":"crossref","first-page":"13771","DOI":"10.1038\/s41598-021-93110-1","article-title":"Loss of FYCO1 leads to cataract formation","volume":"11","author":"Satoh","year":"2021","journal-title":"Sci. Rep."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1016\/j.ejmg.2015.11.003","article-title":"Associated congenital anomalies among cases with Down syndrome","volume":"58","author":"Stoll","year":"2015","journal-title":"Eur. J. Med. Genet."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"3119","DOI":"10.1093\/hmg\/ddv063","article-title":"Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model","volume":"24","author":"Pfirrmann","year":"2015","journal-title":"Hum. Mol. Genet."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/11\/1\/16\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T07:50:31Z","timestamp":1760169031000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/11\/1\/16"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,21]]},"references-count":65,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,1]]}},"alternative-id":["jcm11010016"],"URL":"https:\/\/doi.org\/10.3390\/jcm11010016","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,21]]}}}