{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T22:00:20Z","timestamp":1791928820916,"version":"4.3.4"},"reference-count":84,"publisher":"Association for Research in Vision and Ophthalmology (ARVO)","issue":"10","license":[{"start":{"date-parts":[[2023,7,19]],"date-time":"2023-07-19T00:00:00Z","timestamp":1689724800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Invest. Ophthalmol. Vis. Sci."],"published-print":{"date-parts":[[2023,7,19]]},"DOI":"10.1167\/iovs.64.10.23","type":"journal-article","created":{"date-parts":[[2023,7,19]],"date-time":"2023-07-19T11:30:55Z","timestamp":1689766255000},"page":"23","source":"Crossref","is-referenced-by-count":10,"title":["Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review"],"prefix":"10.1167","volume":"64","author":[{"given":"Kirk A. J.","family":"Stephenson","sequence":"first","affiliation":[{"name":"Clinical Ophthalmic Genetics Unit, Mater Misericordiae University Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Whelan","sequence":"additional","affiliation":[{"name":"The School of Genetics & Microbiology, Trinity College Dublin, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Zhu","sequence":"additional","affiliation":[{"name":"Clinical Ophthalmic Genetics Unit, Mater Misericordiae University Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian","family":"Dockery","sequence":"additional","affiliation":[{"name":"Next Generation Sequencing Laboratory, Pathology Department, Mater Misericordiae University Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niamh C.","family":"Wynne","sequence":"additional","affiliation":[{"name":"The Research Foundation, Royal Victoria Eye & Ear Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca M.","family":"Cairns","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Belfast Health and Social Care Trust Hospitals, Belfast, Northern Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Kirk","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Belfast Health and Social Care Trust Hospitals, Belfast, Northern Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacqueline","family":"Turner","sequence":"additional","affiliation":[{"name":"Clinical Ophthalmic Genetics Unit, Mater Misericordiae University Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma S.","family":"Duignan","sequence":"additional","affiliation":[{"name":"The Research Foundation, Royal Victoria Eye & Ear Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James J.","family":"O'Byrne","sequence":"additional","affiliation":[{"name":"Clinical Ophthalmic Genetics Unit, Mater Misericordiae University Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuliana","family":"Silvestri","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Belfast Health and Social Care Trust Hospitals, Belfast, Northern Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul F.","family":"Kenna","sequence":"additional","affiliation":[{"name":"The School of Genetics & Microbiology, Trinity College Dublin, Dublin, Ireland"},{"name":"The Research Foundation, Royal Victoria Eye & Ear Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. Jane","family":"Farrar","sequence":"additional","affiliation":[{"name":"The School of Genetics & Microbiology, Trinity College Dublin, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Keegan","sequence":"additional","affiliation":[{"name":"Clinical Ophthalmic Genetics Unit, Mater Misericordiae University Hospital, Dublin, Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27","reference":[{"key":"bib1","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1016\/0021-9681(83)90147-9","article-title":"Usher syndrome: definition and estimate of prevalence from two high-risk populations","volume":"36","author":"Boughman","year":"1983","journal-title":"J Chronic Dis"},{"key":"bib2","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1136\/bjo.81.1.46","article-title":"Usher syndrome in the city of Birmingham\u2013prevalence and clinical classification","volume":"81","author":"Hope","year":"1997","journal-title":"Br J Ophthalmol"},{"key":"bib3","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1097\/GIM.0b013e3181e5afb8","article-title":"Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children","volume":"12","author":"Kimberling","year":"2010","journal-title":"Genet Med"},{"key":"bib4","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1288\/00005537-198901000-00014","article-title":"Usher syndrome: an otoneurologic study","volume":"99","author":"Moller","year":"1989","journal-title":"Laryngoscope"},{"key":"bib5","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1111\/j.1399-0004.1997.tb02480.x","article-title":"The prevalence of Usher syndrome and other retinal dystrophy-hearing impairment associations","volume":"51","author":"Rosenberg","year":"1997","journal-title":"Clin Genet"},{"key":"bib6","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1002\/(ISSN)1096-8628","article-title":"Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium","volume":"50","author":"Smith","year":"1994","journal-title":"Am J Med Genet"},{"key":"bib7","doi-asserted-by":"publisher","first-page":"417217","DOI":"10.1155\/2011\/417217","article-title":"An update on the genetics of usher syndrome","volume":"2011","author":"Millan","year":"2011","journal-title":"J Ophthalmol"},{"key":"bib8","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1038\/jhg.2010.29","article-title":"Genetics and pathological mechanisms of Usher syndrome","volume":"55","author":"Yan","year":"2010","journal-title":"J Hum Genet"},{"issue":"No 2","key":"bib9","doi-asserted-by":"crossref","first-page":"R262","DOI":"10.1093\/hmg\/ddl205","article-title":"Usher syndrome: molecular links of pathogenesis, proteins and pathways","volume":"15 Spec","author":"Kremer","year":"2006","journal-title":"Hum Mol Genet"},{"key":"bib10","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1007\/s00439-016-1648-8","article-title":"Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss","volume":"135","author":"Sloan-Heggen","year":"2016","journal-title":"Hum Genet"},{"key":"bib11","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1002\/humu.v42.3","article-title":"New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV","volume":"42","author":"Peter","year":"2021","journal-title":"Hum Mutat"},{"key":"bib12","doi-asserted-by":"publisher","first-page":"1004","DOI":"10.1038\/gim.2017.227","article-title":"A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans","volume":"20","author":"Khateb","year":"2018","journal-title":"Genet Med"},{"key":"bib13","doi-asserted-by":"publisher","first-page":"100736","DOI":"10.1016\/j.ajoc.2020.100736","article-title":"Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4","volume":"19","author":"Abad-Morales","year":"2020","journal-title":"Am J Ophthalmol Case Rep"},{"key":"bib14","doi-asserted-by":"publisher","first-page":"1723","DOI":"10.1007\/s00439-022-02441-0","article-title":"Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants","volume":"141","author":"Velde","year":"2022","journal-title":"Hum Genet"},{"key":"bib15","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1136\/jmedgenet-2011-100468","article-title":"Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study","volume":"49","author":"Le Quesne Stabej","year":"2012","journal-title":"J Med Genet"},{"key":"bib16","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1007\/BF00130927","article-title":"The ophthalmological course of Usher syndrome type III","volume":"19","author":"Pakarinen","year":"1995","journal-title":"Int Ophthalmol"},{"key":"bib17","doi-asserted-by":"publisher","first-page":"e28936","DOI":"10.1371\/journal.pone.0028936","article-title":"Genetic mapping and exome sequencing identify variants associated with five novel diseases","volume":"7","author":"Puffenberger","year":"2012","journal-title":"PLoS One"},{"key":"bib18","doi-asserted-by":"crossref","first-page":"2515841420952194","DOI":"10.1177\/2515841420952194","article-title":"Usher syndrome: clinical features, molecular genetics and advancing therapeutics","volume":"12","author":"Toms","year":"2020","journal-title":"Ther Adv Ophthalmol"},{"key":"bib19","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1136\/jmg.2007.054999","article-title":"Recent advances in the molecular pathology, cell biology and genetics of ciliopathies","volume":"45","author":"Adams","year":"2008","journal-title":"J Med Genet"},{"key":"bib20","doi-asserted-by":"publisher","first-page":"977","DOI":"10.3389\/fphar.2020.00977","article-title":"The primary cilium as a therapeutic target in ocular diseases","volume":"11","author":"Zhou","year":"2020","journal-title":"Front Pharmacol"},{"key":"bib21","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1097\/AUD.0000000000001066","article-title":"Review of genotype-phenotype correlations in Usher syndrome","volume":"43","author":"Nisenbaum","year":"2022","journal-title":"Ear Hear"},{"key":"bib22","doi-asserted-by":"publisher","first-page":"253","DOI":"10.1136\/jmg.30.3.253","article-title":"Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers","volume":"30","author":"Bonneau","year":"1993","journal-title":"J Med Genet"},{"key":"bib23","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1001\/archopht.1986.01050150085033","article-title":"Abnormal sperm and photoreceptor axonemes in Usher's syndrome","volume":"104","author":"Hunter","year":"1986","journal-title":"Arch Ophthalmol"},{"key":"bib24","doi-asserted-by":"publisher","first-page":"1795","DOI":"10.1016\/S0140-6736(06)69740-7","article-title":"Retinitis pigmentosa","volume":"368","author":"Hartong","year":"2006","journal-title":"Lancet"},{"key":"bib25","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1016\/j.ophtha.2016.01.021","article-title":"Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome Type IIa than for those with nonsyndromic retinitis pigmentosa","volume":"123","author":"Pierrache","year":"2016","journal-title":"Ophthalmology"},{"key":"bib26","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1016\/j.ejmg.2009.03.018","article-title":"Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2\/USH1B, DFNB12\/USH1D and DFNB23\/USH1F","volume":"52","author":"Ammar-Khodja","year":"2009","journal-title":"Eur J Med Genet"},{"key":"bib27","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1038\/ng0697-188","article-title":"Mutations in the myosin VIIA gene cause non-syndromic recessive deafness","volume":"16","author":"Liu","year":"1997","journal-title":"Nat Genet"},{"key":"bib28","doi-asserted-by":"publisher","first-page":"151","DOI":"10.3390\/genes12020151","article-title":"Peripheral anomalies in USH2A cause central auditory anomalies in a mouse model of Usher syndrome and CAPD","volume":"12","author":"Perrino","year":"2021","journal-title":"Genes (Basel)"},{"key":"bib29","doi-asserted-by":"publisher","first-page":"1581","DOI":"10.1097\/IAE.0000000000001389","article-title":"Clinical presentation and disease course of usher syndrome because of mutations in MYO7A or USH2A","volume":"37","author":"Testa","year":"2017","journal-title":"Retina"},{"key":"bib30","doi-asserted-by":"publisher","first-page":"1336","DOI":"10.1001\/archopht.1986.01050210090031","article-title":"Visual acuity loss in patients with Usher's syndrome","volume":"104","author":"Piazza","year":"1986","journal-title":"Arch Ophthalmol"},{"key":"bib31","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1111\/cge.1987.31.issue-4","article-title":"Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway","volume":"31","author":"Gr\u00f8ndahl","year":"1987","journal-title":"Clin Genet"},{"key":"bib32","doi-asserted-by":"publisher","first-page":"2441","DOI":"10.1016\/j.ymthe.2021.04.024","article-title":"Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations","volume":"29","author":"Dulla","year":"2021","journal-title":"Mol Ther"},{"key":"bib33","doi-asserted-by":"publisher","first-page":"824","DOI":"10.1038\/gt.2013.3","article-title":"Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus","volume":"20","author":"Lopes","year":"2013","journal-title":"Gene Ther"},{"key":"bib34","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1007\/s00439-022-02448-7","article-title":"The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification","volume":"141","author":"Delmaghani","year":"2022","journal-title":"Hum Genet"},{"key":"bib35","doi-asserted-by":"publisher","first-page":"707","DOI":"10.2147\/OPTH","article-title":"The impact of inherited retinal diseases in the Republic of Ireland (ROI) and the United Kingdom (UK) from a cost-of-illness perspective","volume":"14","author":"Galvin","year":"2020","journal-title":"Clin Ophthalmol"},{"key":"bib36","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1186\/s13023-021-01841-1","article-title":"Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations","volume":"16","author":"Stephenson","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"bib37","doi-asserted-by":"publisher","first-page":"33248","DOI":"10.1038\/srep33248","article-title":"Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations","volume":"6","author":"Carrigan","year":"2016","journal-title":"Sci Rep"},{"key":"bib38","doi-asserted-by":"publisher","first-page":"304","DOI":"10.3390\/genes8110304","article-title":"Target 5000: target capture sequencing for inherited retinal degenerations","volume":"8","author":"Dockery","year":"2017","journal-title":"Genes"},{"key":"bib39","doi-asserted-by":"publisher","first-page":"105","DOI":"10.3390\/genes11010105","article-title":"Findings from a genotyping study of over 1000 people with inherited retinal disorders in Ireland","volume":"11","author":"Whelan","year":"2020","journal-title":"Genes"},{"key":"bib40","doi-asserted-by":"publisher","first-page":"R2","DOI":"10.1093\/hmg\/ddx185","article-title":"Toward an elucidation of the molecular genetics of inherited retinal degenerations","volume":"26","author":"Farrar","year":"2017","journal-title":"Hum Mol Genet"},{"key":"bib41","doi-asserted-by":"publisher","first-page":"5684","DOI":"10.3390\/ijms22115684","article-title":"Next-Generation Sequencing Applications for Inherited Retinal Diseases","volume":"22","author":"Dockery","year":"2021","journal-title":"Int J Mol Sci"},{"key":"bib42","doi-asserted-by":"publisher","first-page":"6419","DOI":"10.3390\/ijms22126419","article-title":"Molecular inversion probe-based sequencing of USH2A exons and splice sites as a cost-effective screening tool in USH2 and arRP cases","volume":"22","author":"Reurink","year":"2021","journal-title":"Int J Mol Sci"},{"key":"bib43","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1038\/s41525-021-00261-1","article-title":"Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases","volume":"6","author":"Fadaie","year":"2021","journal-title":"NPJ Genom Med"},{"key":"bib44","first-page":"100181","article-title":"Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction","volume":"4","author":"Reurink","year":"2023","journal-title":"HGG Adv"},{"key":"bib45","doi-asserted-by":"publisher","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":"bib46","doi-asserted-by":"publisher","first-page":"1569","DOI":"10.1086\/316889","article-title":"Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I","volume":"67","author":"Astuto","year":"2000","journal-title":"Am J Hum Genet"},{"key":"bib47","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1136\/jmg.40.10.767","article-title":"Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III","volume":"40","author":"Ness","year":"2003","journal-title":"J Med Genet"},{"key":"bib48","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1136\/jmedgenet-2017-104974","article-title":"Catalogue of inherited disorders found among the Irish Traveller population","volume":"55","author":"Lynch","year":"2018","journal-title":"J Med Genet"},{"key":"bib49","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1111\/cge.2017.92.issue-1","article-title":"The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome","volume":"92","author":"Kletke","year":"2017","journal-title":"Clin Genet"},{"key":"bib50","doi-asserted-by":"publisher","first-page":"995","DOI":"10.3390\/ijms23020995","article-title":"Clinical and genetic re-evaluation of inherited retinal degeneration pedigrees following initial negative findings on panel-based next generation sequencing","volume":"23","author":"Stephenson","year":"2022","journal-title":"Int J Mol Sci"},{"key":"bib51","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1016\/j.ajo.2018.06.017","article-title":"Efficacy outcome measures for clinical trials of USH2A caused by the common c.2299delG mutation","volume":"193","author":"Calzetti","year":"2018","journal-title":"Am J Ophthalmol"},{"key":"bib52","doi-asserted-by":"publisher","first-page":"13294","DOI":"10.3390\/ijms222413294","article-title":"The Study of a 231 French patient cohort significantly extends the mutational spectrum of the two major Usher genes MYO7A and USH2A","volume":"22","author":"Mansard","year":"2021","journal-title":"Int J Mol Sci"},{"key":"bib53","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1016\/j.exer.2004.03.005","article-title":"Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa","volume":"79","author":"Seyedahmadi","year":"2004","journal-title":"Exp Eye Res"},{"key":"bib54","doi-asserted-by":"publisher","first-page":"1730","DOI":"10.1038\/ejhg.2016.99","article-title":"An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients","volume":"24","author":"Bonnet","year":"2016","journal-title":"Eur J Hum Genet"},{"key":"bib55","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1055\/s-0038-1670705","article-title":"Cochlear implantation for children and adults with severe-to-profound hearing loss","volume":"39","author":"Entwisle","year":"2018","journal-title":"Semin Hear"},{"key":"bib56","doi-asserted-by":"publisher","first-page":"2158","DOI":"10.1002\/lary.v129.9","article-title":"Control of speech and voice in cochlear implant patients","volume":"129","author":"Gautam","year":"2019","journal-title":"Laryngoscope"},{"key":"bib57","doi-asserted-by":"publisher","first-page":"803","DOI":"10.1097\/00001756-200404090-00012","article-title":"Absolute pitch in blind musicians","volume":"15","author":"Hamilton","year":"2004","journal-title":"Neuroreport"},{"key":"bib58","doi-asserted-by":"publisher","first-page":"2282","DOI":"10.1016\/j.ymthe.2018.05.025","article-title":"Retinal AAV8-RS1 gene therapy for X-linked retinoschisis: initial findings from a Phase I\/IIa trial by intravitreal delivery","volume":"26","author":"Cukras","year":"2018","journal-title":"Mol Ther"},{"key":"bib59","doi-asserted-by":"publisher","first-page":"277","DOI":"10.1080\/17469899.2019.1699406","article-title":"Progress in the development of novel therapies for choroideremia","volume":"14","author":"Cehajic Kapetanovic","year":"2019","journal-title":"Expert Rev Ophthalmol"},{"key":"bib60","doi-asserted-by":"publisher","first-page":"354","DOI":"10.1038\/s41591-020-0763-1","article-title":"Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR","volume":"26","author":"Cehajic-Kapetanovic","year":"2020","journal-title":"Nat Med"},{"key":"bib61","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1001\/jamaophthalmol.2020.1032","article-title":"Safety and vision outcomes of subretinal gene therapy targeting cone photoreceptors in achromatopsia: a nonrandomized controlled trial","volume":"138","author":"Fischer","year":"2020","journal-title":"JAMA Ophthalmol"},{"key":"bib62","doi-asserted-by":"publisher","first-page":"849","DOI":"10.1016\/S0140-6736(17)31868-8","article-title":"Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial","volume":"390","author":"Russell","year":"2017","journal-title":"Lancet"},{"key":"bib63","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1136\/bjophthalmol-2016-309376","article-title":"Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention","volume":"101","author":"Strong","year":"2017","journal-title":"Br J Ophthalmol"},{"key":"bib64","doi-asserted-by":"publisher","first-page":"1146","DOI":"10.1001\/archophthalmol.2010.172","article-title":"Efficacy of sustained topical dorzolamide therapy for cystic macular lesions in patients with retinitis pigmentosa and usher syndrome","volume":"128","author":"Genead","year":"2010","journal-title":"Arch Ophthalmol"},{"key":"bib65","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/j.ajo.2017.07.008","article-title":"Development of refractive errors-what can we learn from inherited retinal dystrophies?","volume":"182","author":"Hendriks","year":"2017","journal-title":"Am J Ophthalmol"},{"key":"bib66","doi-asserted-by":"publisher","first-page":"1360","DOI":"10.1136\/bjophthalmol-2014-306224","article-title":"Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia","volume":"99","author":"Chassine","year":"2015","journal-title":"Br J Ophthalmol"},{"key":"bib67","doi-asserted-by":"publisher","first-page":"593","DOI":"10.1111\/aos.2015.93.issue-7","article-title":"Cataract surgery and age-related macular degeneration. An evidence-based update","volume":"93","author":"Kessel","year":"2015","journal-title":"Acta Ophthalmol"},{"key":"bib68","doi-asserted-by":"publisher","first-page":"6699103","DOI":"10.1155\/2020\/6699103","article-title":"A review of complicated cataract in retinitis pigmentosa: pathogenesis and cataract surgery","volume":"2020","author":"Hong","year":"2020","journal-title":"J Ophthalmol"},{"key":"bib69","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1016\/j.ajo.2017.05.026","article-title":"Evaluating structural progression of retinitis pigmentosa after cataract surgery","volume":"180","author":"De Rojas","year":"2017","journal-title":"Am J Ophthalmol"},{"key":"bib70","doi-asserted-by":"publisher","first-page":"1753","DOI":"10.4103\/ijo.IJO_2916_20","article-title":"Cataract surgery in retinitis pigmentosa","volume":"69","author":"Chatterjee","year":"2021","journal-title":"Indian J Ophthalmol"},{"key":"bib71","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1007\/s10633-019-09704-8","article-title":"Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study","volume":"139","author":"Stingl","year":"2019","journal-title":"Doc Ophthalmol"},{"key":"bib72","doi-asserted-by":"publisher","first-page":"1531","DOI":"10.1167\/iovs.14-15995","article-title":"Efficacy and prognostic factors of response to carbonic anhydrase inhibitors in management of cystoid macular edema in retinitis pigmentosa","volume":"56","author":"Liew","year":"2015","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"bib73","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1016\/S0002-9394(98)00446-2","article-title":"Association of antiretinal antibodies and cystoid macular edema in patients with retinitis pigmentosa","volume":"127","author":"Heckenlively","year":"1999","journal-title":"Am J Ophthalmol"},{"key":"bib74","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1097\/ICU.0b013e328349229e","article-title":"Macular cysts in retinal dystrophy","volume":"22","author":"Ganesh","year":"2011","journal-title":"Curr Opin Ophthalmol"},{"key":"bib75","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1097\/IAE.0b013e31809862aa","article-title":"Prevalence of cystoid macular edema and stability in oct retinal thickness in eyes with retinitis pigmentosa during a 48-week lutein trial","volume":"28","author":"Adackapara","year":"2008","journal-title":"Retina"},{"key":"bib76","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1016\/S0002-9394(99)00100-2","article-title":"Optical coherence tomography of cystoid macular edema associated with retinitis pigmentosa","volume":"128","author":"Hirakawa","year":"1999","journal-title":"Am J Ophthalmol"},{"key":"bib77","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1080\/13816810.2017.1329445","article-title":"Prevalence of macular abnormalities assessed by optical coherence tomography in patients with Usher syndrome","volume":"39","author":"Testa","year":"2018","journal-title":"Ophthalmic Genet"},{"key":"bib78","doi-asserted-by":"publisher","first-page":"1206","DOI":"10.1038\/eye.2008.105","article-title":"Prevalence of cystic macular lesions in patients with Usher II syndrome","volume":"23","author":"Walia","year":"2009","journal-title":"Eye (Lond)"},{"key":"bib79","doi-asserted-by":"publisher","first-page":"1899","DOI":"10.1016\/j.ophtha.2004.04.019","article-title":"Monitoring cystoid macular edema by optical coherence tomography in patients with retinitis pigmentosa","volume":"111","author":"Apushkin","year":"2004","journal-title":"Ophthalmology"},{"key":"bib80","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1186\/s13023-015-0372-0","article-title":"Novel grading system for quantification of cystic macular lesions in Usher syndrome","volume":"10","author":"Sliesoraityte","year":"2015","journal-title":"Orphanet J Rare Dis"},{"key":"bib81","doi-asserted-by":"publisher","first-page":"e144","DOI":"10.1016\/S2214-109X(20)30489-7","article-title":"Causes of blindness and vision impairment in 2020 and trends over 30 years, and prevalence of avoidable blindness in relation to VISION 2020: the Right to Sight: an analysis for the Global Burden of Disease Study","volume":"9","year":"2021","journal-title":"Lancet Global Health"},{"key":"bib83","doi-asserted-by":"publisher","first-page":"1248","DOI":"10.1038\/ejhg.2010.87","article-title":"Population structure and genome-wide patterns of variation in Ireland and Britain","volume":"18","author":"O'Dushlaine","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"bib84","doi-asserted-by":"publisher","first-page":"e94272","DOI":"10.1371\/journal.pone.0094272","article-title":"EIAV-based retinal gene therapy in the shaker1 mouse model for usher syndrome type 1B: development of UshStat","volume":"9","author":"Zallocchi","year":"2014","journal-title":"PLoS One"},{"key":"bib82","volume-title":"2011\u20132015 American Community Survey Selected Population Tables","author":"Selected Social Characteristics in the United States 2011\u20132015","year":"2015"}],"container-title":["Investigative Opthalmology &amp; Visual Science"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2791319","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:31:41Z","timestamp":1791927101000},"score":1,"resource":{"primary":{"URL":"https:\/\/iovs.arvojournals.org\/article.aspx?articleid=2791319"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,19]]},"references-count":84,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2023,7,3]]}},"URL":"https:\/\/doi.org\/10.1167\/iovs.64.10.23","relation":{},"ISSN":["1552-5783"],"issn-type":[{"value":"1552-5783","type":"print"}],"subject":[],"published":{"date-parts":[[2023,7,19]]}}}