{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T14:11:58Z","timestamp":1784988718045,"version":"3.55.0"},"reference-count":193,"publisher":"BMJ","issue":"10","funder":[{"DOI":"10.13039\/100010269","name":"The Wellcome Trust","doi-asserted-by":"crossref","award":["099173\/Z\/12\/Z"],"award-info":[{"award-number":["099173\/Z\/12\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Br J Ophthalmol"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:p>Combined vision and hearing loss, also known as dual sensory impairment, can occur in several genetic conditions, including ciliopathies such as Usher and Bardet-Biedl syndrome, mitochondrial DNA disorders and systemic diseases, such as CHARGE, Stickler, Waardenburg, Alport and Alstrom syndrome. The retinal phenotype may point to the diagnosis of such disorders. Herein, we aim to provide a comprehensive review of the molecular genetics and clinical features of the most common non-chromosomal inherited disorders to cause dual sensory impairment.<\/jats:p>","DOI":"10.1136\/bjo-2022-321790","type":"journal-article","created":{"date-parts":[[2022,9,26]],"date-time":"2022-09-26T17:20:33Z","timestamp":1664212833000},"page":"1403-1414","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":29,"title":["Inherited causes of combined vision and hearing loss: clinical features and molecular genetics"],"prefix":"10.1136","volume":"107","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7936-6851","authenticated-orcid":false,"given":"Thales Antonio Cabral de","family":"Guimaraes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Arram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed F","family":"Shakarchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6397-8071","authenticated-orcid":false,"given":"Michalis","family":"Georgiou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Michaelides","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,9,26]]},"reference":[{"key":"2023092102150599000_107.10.1403.1","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1001\/jamainternmed.2013.1880","article-title":"The prevalence of concurrent hearing and vision impairment in the United States","volume":"173","author":"Swenor","year":"2013","journal-title":"JAMA Intern Med"},{"key":"2023092102150599000_107.10.1403.2","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0203772","article-title":"Participation experiences of people with deafblindness or dual sensory loss: a scoping review of global deafblind literature","volume":"13","author":"Jaiswal","year":"2018","journal-title":"PLoS One"},{"key":"2023092102150599000_107.10.1403.3","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1001\/jamaophthalmol.2020.3982","article-title":"Dual sensory impairment and perceived everyday discrimination in the United States","volume":"138","author":"Shakarchi","year":"2020","journal-title":"JAMA Ophthalmol"},{"key":"2023092102150599000_107.10.1403.4","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.anl.2020.08.017","article-title":"Clinical genetics, practice, and research of deafblindness: from uncollected experiences to the National registry in Japan","volume":"48","author":"Matsunaga","year":"2021","journal-title":"Auris Nasus Larynx"},{"key":"2023092102150599000_107.10.1403.5","doi-asserted-by":"publisher","DOI":"10.3109\/14767058.2016.1169526"},{"key":"2023092102150599000_107.10.1403.6","first-page":"6","article-title":"Cogan's syndrome","volume":"59","author":"Iliescu","year":"2015","journal-title":"Rom J Ophthalmol"},{"key":"2023092102150599000_107.10.1403.7","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1016\/j.autrev.2017.10.005","article-title":"Cogan syndrome: characteristics, outcome and treatment in a French nationwide retrospective study and literature review","volume":"16","author":"Durtette","year":"2017","journal-title":"Autoimmun Rev"},{"key":"2023092102150599000_107.10.1403.8","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1097\/WNO.0000000000000677","article-title":"Diagnostic criteria and treatment algorithm for Susac syndrome","volume":"39","author":"Egan","year":"2019","journal-title":"J Neuroophthalmol"},{"key":"2023092102150599000_107.10.1403.9","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/j.bbadis.2014.11.020","article-title":"Usher syndrome: hearing loss, retinal degeneration and associated abnormalities","volume":"1852","author":"Mathur","year":"2015","journal-title":"Biochim Biophys Acta"},{"key":"2023092102150599000_107.10.1403.10","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/978-3-319-95046-4_32","article-title":"Ciliopathy: Usher syndrome","volume":"1085","author":"Tsang","year":"2018","journal-title":"Adv Exp Med Biol"},{"key":"2023092102150599000_107.10.1403.11","doi-asserted-by":"crossref","first-page":"251584142095219","DOI":"10.1177\/2515841420952194","article-title":"Usher syndrome: clinical features, molecular genetics and advancing therapeutics","volume":"12","author":"Toms","year":"2020","journal-title":"Ophthalmol Eye Dis"},{"key":"2023092102150599000_107.10.1403.12","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-95046-4_33"},{"key":"2023092102150599000_107.10.1403.13","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.115"},{"key":"2023092102150599000_107.10.1403.14","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1002\/ajmg.c.31840","article-title":"Charge syndrome without colobomas: ophthalmic findings","volume":"184","author":"Dosunmu","year":"2020","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2023092102150599000_107.10.1403.15","doi-asserted-by":"publisher","DOI":"10.1111\/jpc.12497"},{"key":"2023092102150599000_107.10.1403.16","first-page":"3072","article-title":"Ophthalmological features and treatments in five cases of Waardenburg syndrome","volume":"20","author":"Liu","year":"2020","journal-title":"Exp Ther Med"},{"key":"2023092102150599000_107.10.1403.17","doi-asserted-by":"crossref","unstructured":"Acke FRE , Dhooge IJM , Malfait F , et al . Hearing impairment in Stickler syndrome: a systematic review. Orphanet J Rare Dis 2012;7:84.doi:10.1186\/1750-1172-7-84","DOI":"10.1186\/1750-1172-7-84"},{"key":"2023092102150599000_107.10.1403.18","doi-asserted-by":"crossref","unstructured":"Boothe M , Morris R , Robin N . Stickler syndrome: a review of clinical manifestations and the genetics evaluation. J Pers Med 2020;10:105.doi:10.3390\/jpm10030105","DOI":"10.3390\/jpm10030105"},{"key":"2023092102150599000_107.10.1403.19","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1007\/978-3-319-95046-4_30","article-title":"Mitochondrial disorder: Kearns-Sayre syndrome","volume":"1085","author":"Tsang","year":"2018","journal-title":"Adv Exp Med Biol"},{"key":"2023092102150599000_107.10.1403.20","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.6.446"},{"key":"2023092102150599000_107.10.1403.21","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1111\/ceo.13917","article-title":"Inherited retinal diseases: therapeutics, clinical trials and end points-A review","volume":"49","author":"Georgiou","year":"2021","journal-title":"Clin Exp Ophthalmol"},{"key":"2023092102150599000_107.10.1403.22","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2021.100975"},{"key":"2023092102150599000_107.10.1403.23","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.21037\/atm-20-4726","article-title":"Gene therapy for inherited retinal diseases","volume":"9","author":"Nuzbrokh","year":"2021","journal-title":"Ann Transl Med"},{"key":"2023092102150599000_107.10.1403.24","doi-asserted-by":"publisher","DOI":"10.1126\/science.1146180"},{"key":"2023092102150599000_107.10.1403.25","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2774"},{"key":"2023092102150599000_107.10.1403.26","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.62.7.13"},{"key":"2023092102150599000_107.10.1403.27","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2010.536064"},{"key":"2023092102150599000_107.10.1403.28","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1001\/jamaophthalmol.2014.4498","article-title":"Clinical Aspects of Usher Syndrome and the USH2A Gene in a Cohort of 433 Patients","volume":"133","author":"Blanco-Kelly","year":"2015","journal-title":"JAMA Ophthalmol"},{"key":"2023092102150599000_107.10.1403.29","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1002\/mgg3.228","article-title":"Usher syndrome in Denmark: mutation spectrum and some clinical observations","volume":"4","author":"Dad","year":"2016","journal-title":"Mol Genet Genomic Med"},{"key":"2023092102150599000_107.10.1403.30","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.29"},{"key":"2023092102150599000_107.10.1403.31","unstructured":"Koenekoop RK , Arriaga MA , Trzupek KM . Usher Syndrome Type I. In: Adam MP , Ardinger HH , Pagon RA , eds. GeneReviews(\u00ae). Seattle, WA: University of Washington, Seattle Copyright \u00a9 1993-2021;University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved, 1993."},{"key":"2023092102150599000_107.10.1403.32","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.045377"},{"key":"2023092102150599000_107.10.1403.33","doi-asserted-by":"publisher","DOI":"10.1038\/374060a0"},{"key":"2023092102150599000_107.10.1403.34","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00109.x"},{"key":"2023092102150599000_107.10.1403.35","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9403"},{"key":"2023092102150599000_107.10.1403.36","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.041954"},{"key":"2023092102150599000_107.10.1403.37","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1227-2"},{"key":"2023092102150599000_107.10.1403.38","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2426"},{"key":"2023092102150599000_107.10.1403.39","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13170"},{"key":"2023092102150599000_107.10.1403.40","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1177\/0194599817715235","article-title":"Usher's syndrome type II: a comparative study of genetic mutations and vestibular system evaluation","volume":"157","author":"Magliulo","year":"2017","journal-title":"Otolaryngol Head Neck Surg"},{"key":"2023092102150599000_107.10.1403.41","doi-asserted-by":"publisher","DOI":"10.1126\/science.280.5370.1753"},{"key":"2023092102150599000_107.10.1403.42","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100468"},{"key":"2023092102150599000_107.10.1403.43","doi-asserted-by":"publisher","DOI":"10.1046\/j.1399-0004.2004.00216.x"},{"key":"2023092102150599000_107.10.1403.44","doi-asserted-by":"publisher","DOI":"10.1086\/321269"},{"key":"2023092102150599000_107.10.1403.45","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00352.x"},{"key":"2023092102150599000_107.10.1403.46","doi-asserted-by":"publisher","DOI":"10.1016\/j.crvi.2013.12.004"},{"key":"2023092102150599000_107.10.1403.47","doi-asserted-by":"publisher","DOI":"10.1007\/BF00130927"},{"key":"2023092102150599000_107.10.1403.48","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1111\/j.1399-0004.1983.tb00082.x","article-title":"An unusual otological manifestation of Usher\u2019s syndrome in four siblings","volume":"24","author":"Karjalainen","year":"1983","journal-title":"Clin Genet"},{"key":"2023092102150599000_107.10.1403.49","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.10.767"},{"key":"2023092102150599000_107.10.1403.50","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.1.93"},{"key":"2023092102150599000_107.10.1403.51","doi-asserted-by":"publisher","DOI":"10.1086\/323610"},{"key":"2023092102150599000_107.10.1403.52","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200831"},{"key":"2023092102150599000_107.10.1403.53","doi-asserted-by":"crossref","unstructured":"Puffenberger EG , Jinks RN , Sougnez C , et al . Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One 2012;7:e28936.doi:10.1371\/journal.pone.0028936","DOI":"10.1371\/journal.pone.0028936"},{"key":"2023092102150599000_107.10.1403.54","doi-asserted-by":"crossref","first-page":"2239","DOI":"10.1038\/s41436-019-0487-0","article-title":"ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs","volume":"21","author":"DiStefano","year":"2019","journal-title":"Genet Med"},{"key":"2023092102150599000_107.10.1403.55","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1002\/humu.24150","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":"2023092102150599000_107.10.1403.56","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1080\/13816810.2021.1946704","article-title":"Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome","volume":"42","author":"Igelman","year":"2021","journal-title":"Ophthalmic Genet"},{"key":"2023092102150599000_107.10.1403.57","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.227"},{"key":"2023092102150599000_107.10.1403.58","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1080\/13816810.2021.1891552","article-title":"Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome","volume":"42","author":"Fowler","year":"2021","journal-title":"Ophthalmic Genet"},{"key":"2023092102150599000_107.10.1403.59","doi-asserted-by":"crossref","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":"2023092102150599000_107.10.1403.60","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","article-title":"New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey","volume":"36","author":"Beales","year":"1999","journal-title":"J Med Genet"},{"key":"2023092102150599000_107.10.1403.61","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0804-9"},{"key":"2023092102150599000_107.10.1403.62","doi-asserted-by":"publisher","DOI":"10.1126\/science.1063525"},{"key":"2023092102150599000_107.10.1403.63","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21480"},{"key":"2023092102150599000_107.10.1403.64","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(88)90586-7"},{"key":"2023092102150599000_107.10.1403.65","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2011.03.001"},{"key":"2023092102150599000_107.10.1403.66","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.06-0517"},{"key":"2023092102150599000_107.10.1403.67","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1111\/j.1600-0420.1996.tb00747.x","article-title":"Full-field electroretinograms in individuals with the Laurence-Mood-Bardet-Biedl syndrome","volume":"74","author":"Riise","year":"1996","journal-title":"Acta Ophthalmol Scand"},{"key":"2023092102150599000_107.10.1403.68","doi-asserted-by":"crossref","first-page":"2325","DOI":"10.1007\/s10792-020-01415-3","article-title":"Characteristics of genotype and phenotype in Chinese patients with Bardet\u2013Biedl syndrome","volume":"40","author":"Tao","year":"2020","journal-title":"Int Ophthalmol"},{"key":"2023092102150599000_107.10.1403.69","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21204"},{"key":"2023092102150599000_107.10.1403.70","doi-asserted-by":"publisher","DOI":"10.1001\/archophthalmol.2012.89"},{"key":"2023092102150599000_107.10.1403.71","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103099"},{"key":"2023092102150599000_107.10.1403.72","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12373"},{"key":"2023092102150599000_107.10.1403.73","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/ajmg.a.30466","article-title":"Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome","volume":"132A","author":"H\u00e9on","year":"2005","journal-title":"Am J Med Genet A"},{"key":"2023092102150599000_107.10.1403.74","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.120.10.1364"},{"key":"2023092102150599000_107.10.1403.75","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.03320410"},{"key":"2023092102150599000_107.10.1403.76","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu441"},{"key":"2023092102150599000_107.10.1403.77","first-page":"10.18103\/mra.v5i9.1526","article-title":"Keeping an eye on Bardet-Biedl syndrome: a comprehensive review of the role of Bardet-Biedl syndrome genes in the eye","volume":"5","author":"Weihbrecht","year":"2017","journal-title":"Med Res Arch"},{"key":"2023092102150599000_107.10.1403.78","doi-asserted-by":"publisher","DOI":"10.1159\/000357054"},{"key":"2023092102150599000_107.10.1403.79","doi-asserted-by":"crossref","first-page":"620","DOI":"10.4103\/0301-4738.194328","article-title":"Bardet\u2013Biedl syndrome: genetics, molecular pathophysiology, and disease management","volume":"64","author":"Priya","year":"2016","journal-title":"Indian J Ophthalmol"},{"key":"2023092102150599000_107.10.1403.80","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20577"},{"key":"2023092102150599000_107.10.1403.81","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22796"},{"key":"2023092102150599000_107.10.1403.82","doi-asserted-by":"publisher","DOI":"10.2174\/138920211795677912"},{"key":"2023092102150599000_107.10.1403.83","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E10-03-0246"},{"key":"2023092102150599000_107.10.1403.84","doi-asserted-by":"publisher","DOI":"10.1038\/ng979"},{"key":"2023092102150599000_107.10.1403.85","doi-asserted-by":"publisher","DOI":"10.1038\/ng874"},{"key":"2023092102150599000_107.10.1403.86","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq493"},{"key":"2023092102150599000_107.10.1403.87","unstructured":"Paisey RB , Steeds R , Barrett T . Alstr\u00f6m Syndrome. In: Adam MP , Ardinger HH , Pagon RA , eds. GeneReviews. Seattle, WA: University of Washington, Seattle Copyright \u00a9 1993-2021;University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved, 1993."},{"key":"2023092102150599000_107.10.1403.88","doi-asserted-by":"publisher","DOI":"10.1111\/aos.13612"},{"key":"2023092102150599000_107.10.1403.89","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(98)97033-6"},{"key":"2023092102150599000_107.10.1403.90","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1080\/13816810.2016.1257029","article-title":"Spectral-Domain optical coherence tomography findings in Alstr\u00f6m syndrome","volume":"38","author":"Dotan","year":"2017","journal-title":"Ophthalmic Genet"},{"key":"2023092102150599000_107.10.1403.91","doi-asserted-by":"publisher","DOI":"10.1001\/archophthalmol.2007.28"},{"key":"2023092102150599000_107.10.1403.92","first-page":"259","article-title":"A syndrome of Deaf-mutism associated with albinism showing dominant autosomal inheritance","volume":"15","author":"Tietz","year":"1963","journal-title":"Am J Hum Genet"},{"key":"2023092102150599000_107.10.1403.93","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jbchem.a022548"},{"key":"2023092102150599000_107.10.1403.94","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.2000.130404.x"},{"key":"2023092102150599000_107.10.1403.95","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-251"},{"key":"2023092102150599000_107.10.1403.96","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.11.2131"},{"key":"2023092102150599000_107.10.1403.97","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.11.004"},{"key":"2023092102150599000_107.10.1403.98","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.8.656"},{"key":"2023092102150599000_107.10.1403.99","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1111\/j.1399-0004.2008.01010.x","article-title":"Tietz syndrome. unique phenotype specific to mutations of MITF nuclear localization signal","volume":"74","author":"Izumi","year":"2008","journal-title":"Clin Genet"},{"key":"2023092102150599000_107.10.1403.100","doi-asserted-by":"crossref","first-page":"17???20","DOI":"10.1097\/00019605-199801000-00003","article-title":"Mutation of the Mitf gene in albinism-deafness syndrome (Tietz syndrome)","volume":"7","author":"Amiel","year":"1998","journal-title":"Clin Dysmorphol"},{"key":"2023092102150599000_107.10.1403.101","first-page":"195","article-title":"A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness","volume":"3","author":"Waardenburg","year":"1951","journal-title":"Am J Hum Genet"},{"key":"2023092102150599000_107.10.1403.102","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/ajmg.a.20260","article-title":"Homozygous and heterozygous inheritance of Pax3 mutations causes different types of Waardenburg syndrome","volume":"122A","author":"Wollnik","year":"2003","journal-title":"Am J Med Genet A"},{"key":"2023092102150599000_107.10.1403.103","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21211"},{"key":"2023092102150599000_107.10.1403.104","doi-asserted-by":"publisher","DOI":"10.1017\/S002221510011196X"},{"key":"2023092102150599000_107.10.1403.105","first-page":"468","article-title":"Heterogeneity in Waardenburg syndrome","volume":"29","author":"Hageman","year":"1977","journal-title":"Am J Hum Genet"},{"key":"2023092102150599000_107.10.1403.106","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1966.03850010799005"},{"key":"2023092102150599000_107.10.1403.107","doi-asserted-by":"crossref","first-page":"670","DOI":"10.3928\/23258160-20150610-12","article-title":"Multimodal Ultrawide-Field imaging features in Waardenburg syndrome","volume":"46","author":"Choudhry","year":"2015","journal-title":"Ophthalmic Surg Lasers Imaging Retina"},{"key":"2023092102150599000_107.10.1403.108","first-page":"Doc22","article-title":"Choroidal thickness in Waardenburg syndrome","volume":"9","author":"Rishi","year":"2019","journal-title":"GMS Ophthalmol Cases"},{"key":"2023092102150599000_107.10.1403.109","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1958.00940080296016"},{"key":"2023092102150599000_107.10.1403.110","first-page":"559","article-title":"External ophthalmoplegia, pigmentary degeneration of the retina, and cardiomyopathy: a newly recognized syndrome","volume":"63","author":"Kearns","year":"1965","journal-title":"Trans Am Ophthalmol Soc"},{"key":"2023092102150599000_107.10.1403.111","doi-asserted-by":"crossref","DOI":"10.4081\/ni.2018.7473","article-title":"Cognitive impairment in neuromuscular diseases: a systematic review","volume":"10","author":"Orsini","year":"2018","journal-title":"Neurol Int"},{"key":"2023092102150599000_107.10.1403.112","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1600-0404.2012.01649.x","article-title":"Cognitive dysfunction in mitochondrial disorders","volume":"126","author":"Finsterer","year":"2012","journal-title":"Acta Neurol Scand"},{"key":"2023092102150599000_107.10.1403.113","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1089\/dna.2019.5010","article-title":"Clinical phenotype and genetic features of a pair of Chinese twins with Kearns-Sayre syndrome","volume":"39","author":"Guo","year":"2020","journal-title":"DNA Cell Biol"},{"key":"2023092102150599000_107.10.1403.114","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00800.x"},{"key":"2023092102150599000_107.10.1403.115","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-005-0827-7"},{"key":"2023092102150599000_107.10.1403.116","first-page":"325","article-title":"Kearns-Sayre syndrome: a case series of 35 adults and children","volume":"7","author":"Khambatta","year":"2014","journal-title":"Int J Gen Med"},{"key":"2023092102150599000_107.10.1403.117","doi-asserted-by":"crossref","unstructured":"Padhy SK , Kumar V , Mandal S . Pigmentary retinopathy in Kearns-Sayre syndrome. BMJ Case Rep 2018;7:bcr2018227394.doi:10.1136\/bcr-2018-227394","DOI":"10.1136\/bcr-2018-227394"},{"key":"2023092102150599000_107.10.1403.118","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-9071.2010.02335.x"},{"key":"2023092102150599000_107.10.1403.119","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1097\/ICB.0000000000000239","article-title":"Development of chronic subretinal fluid in KEARNS\u2013SAYRE syndrome","volume":"10","author":"Paulus","year":"2016","journal-title":"Retin Cases Brief Rep"},{"key":"2023092102150599000_107.10.1403.120","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1080\/13816810.2020.1799416","article-title":"Retinoschisis associated with Kearns-Sayre syndrome","volume":"41","author":"Chertkof","year":"2020","journal-title":"Ophthalmic Genet"},{"key":"2023092102150599000_107.10.1403.121","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1186\/s40942-017-0077-8","article-title":"Macular findings in spectral domain optical coherence tomography and OCT angiography in a patient with Kearns\u2013Sayre syndrome","volume":"3","author":"Ortiz","year":"2017","journal-title":"Int J Retina Vitreous"},{"key":"2023092102150599000_107.10.1403.122","doi-asserted-by":"crossref","first-page":"1633","DOI":"10.1016\/j.jfo.2021.03.014","article-title":"Ocular involvement in Kearns-Sayre syndrome","volume":"44","author":"de Las Rivas Ram\u00edrez","year":"2021","journal-title":"J Fr Ophtalmol"},{"key":"2023092102150599000_107.10.1403.123","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1097\/00003226-198909000-00009","article-title":"Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome)","volume":"8","author":"Ohkoshi","year":"1989","journal-title":"Cornea"},{"key":"2023092102150599000_107.10.1403.124","doi-asserted-by":"publisher","DOI":"10.1097\/00003226-199405000-00014"},{"key":"2023092102150599000_107.10.1403.125","doi-asserted-by":"crossref","first-page":"271","DOI":"10.3109\/01658108908997367","article-title":"Familial ophthalmoplegia-plus syndrome with corneal endothelial disorder","volume":"9","author":"Kosmorsky","year":"1989","journal-title":"Neuroophthalmology"},{"key":"2023092102150599000_107.10.1403.126","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2006.101055"},{"key":"2023092102150599000_107.10.1403.127","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)92560-3"},{"key":"2023092102150599000_107.10.1403.128","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1007\/978-3-319-95046-4_31","article-title":"Mitochondrial disorder: maternally inherited diabetes and deafness","volume":"1085","author":"Tsang","year":"2018","journal-title":"Adv Exp Med Biol"},{"key":"2023092102150599000_107.10.1403.129","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-134-9_Part_1-200105010-00008"},{"key":"2023092102150599000_107.10.1403.130","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.126.3.320"},{"key":"2023092102150599000_107.10.1403.131","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2007.131177"},{"key":"2023092102150599000_107.10.1403.132","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2013.05.013"},{"key":"2023092102150599000_107.10.1403.133","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.ajo.2020.05.023","article-title":"Structural features associated with the development and progression of rorA secondary to maternally inherited diabetes and deafness","volume":"218","author":"M\u00fcller","year":"2020","journal-title":"Am J Ophthalmol"},{"key":"2023092102150599000_107.10.1403.134","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34071"},{"key":"2023092102150599000_107.10.1403.135","first-page":"433","article-title":"Hereditary progressive arthro-ophthalmopathy","volume":"40","author":"Stickler","year":"1965","journal-title":"Mayo Clin Proc"},{"key":"2023092102150599000_107.10.1403.136","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240302"},{"key":"2023092102150599000_107.10.1403.137","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1002\/ajmg.a.10619","article-title":"Prevalence of mitral valve prolapse in Stickler syndrome","volume":"116A","author":"Ahmad","year":"2003","journal-title":"Am J Med Genet A"},{"key":"2023092102150599000_107.10.1403.138","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.5.353"},{"key":"2023092102150599000_107.10.1403.139","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200105000-00008"},{"key":"2023092102150599000_107.10.1403.140","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/S0002-9394(14)76982-X","article-title":"Distinctive cataract in the Stickler syndrome","volume":"110","author":"Seery","year":"1990","journal-title":"Am J Ophthalmol"},{"key":"2023092102150599000_107.10.1403.141","doi-asserted-by":"publisher","DOI":"10.1086\/321189"},{"key":"2023092102150599000_107.10.1403.142","doi-asserted-by":"publisher","DOI":"10.1007\/s00417-001-0380-8"},{"key":"2023092102150599000_107.10.1403.143","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1007\/s004170100286","article-title":"Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. apropos of a case","volume":"239","author":"Parentin","year":"2001","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"2023092102150599000_107.10.1403.144","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2007.03.059"},{"key":"2023092102150599000_107.10.1403.145","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1080\/13816810.2020.1747092","article-title":"Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review","volume":"41","author":"Boysen","year":"2020","journal-title":"Ophthalmic Genet"},{"key":"2023092102150599000_107.10.1403.146","doi-asserted-by":"crossref","DOI":"10.3390\/genes12101578","article-title":"Genetic characteristics and phenotype of Korean patients with Stickler syndrome: a Korean multicenter analysis report No. 1","volume":"12","author":"Choi","year":"2021","journal-title":"Genes"},{"key":"2023092102150599000_107.10.1403.147","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1016\/j.ophtha.2014.02.022","article-title":"Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol","volume":"121","author":"Fincham","year":"2014","journal-title":"Ophthalmology"},{"key":"2023092102150599000_107.10.1403.148","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1097\/IAE.0000000000003304","article-title":"The prophylaxis of FELLOW-EYE retinal detachment in Stickler syndrome: a retrospective series","volume":"42","author":"Ripandelli","year":"2022","journal-title":"Retina"},{"key":"2023092102150599000_107.10.1403.149","doi-asserted-by":"crossref","first-page":"612","DOI":"10.3928\/23258160-20201104-02","article-title":"Long-Term follow-up of retinal detachment repair in patients with Stickler syndrome","volume":"51","author":"Lee","year":"2020","journal-title":"Ophthalmic Surg Lasers Imaging Retina"},{"key":"2023092102150599000_107.10.1403.150","doi-asserted-by":"publisher","DOI":"10.1038\/ng0692-199"},{"key":"2023092102150599000_107.10.1403.151","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.11.816"},{"key":"2023092102150599000_107.10.1403.152","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2020.100898"},{"key":"2023092102150599000_107.10.1403.153","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1961.00960010616003"},{"key":"2023092102150599000_107.10.1403.154","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1111\/j.1755-3768.1961.tb07740.x","article-title":"NORRIE\u2019S disease","volume":"39","author":"Warburg","year":"1961","journal-title":"Acta Ophthalmol"},{"key":"2023092102150599000_107.10.1403.155","doi-asserted-by":"crossref","first-page":"1909","DOI":"10.1002\/ajmg.a.35469","article-title":"Norrie disease: extraocular clinical manifestations in 56 patients","volume":"158A","author":"Smith","year":"2012","journal-title":"Am J Med Genet A"},{"key":"2023092102150599000_107.10.1403.156","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2004.042556"},{"key":"2023092102150599000_107.10.1403.157","doi-asserted-by":"publisher","DOI":"10.1177\/000348940511400707"},{"key":"2023092102150599000_107.10.1403.158","doi-asserted-by":"crossref","DOI":"10.1136\/bmjpo-2020-000781","article-title":"Impact of sight and hearing loss in patients with Norrie disease: advantages of dual sensory clinics in patient care","volume":"4","author":"Sowden","year":"2020","journal-title":"BMJ Paediatr Open"},{"key":"2023092102150599000_107.10.1403.159","doi-asserted-by":"publisher","DOI":"10.1038\/sj.eye.6701840"},{"key":"2023092102150599000_107.10.1403.160","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1111\/j.1755-3768.1963.tb03533.x","article-title":"Norie's disease (atrofia bulborum hereditaria)","volume":"41","author":"Warburg","year":"1963","journal-title":"Acta Ophthalmol"},{"key":"2023092102150599000_107.10.1403.161","doi-asserted-by":"publisher","DOI":"10.1001\/archophthalmol.2009.403"},{"key":"2023092102150599000_107.10.1403.162","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80454-4"},{"key":"2023092102150599000_107.10.1403.163","doi-asserted-by":"crossref","unstructured":"Onesimo R , Ricci D , Agazzi C , et al . Visual function and Ophthalmological findings in charge syndrome: revision of literature, definition of a new clinical spectrum and genotype phenotype correlation. Genes 2021;12:972.doi:10.3390\/genes12070972","DOI":"10.3390\/genes12070972"},{"key":"2023092102150599000_107.10.1403.164","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22086"},{"key":"2023092102150599000_107.10.1403.165","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq265"},{"key":"2023092102150599000_107.10.1403.166","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(2000)9999:999<00::AID-AJMG1126>3.0.CO;2-8"},{"key":"2023092102150599000_107.10.1403.167","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.1034","article-title":"Identification of a novel heterozygous missense mutation of SEMA3E (c.1327G>A; p. Ala443Thr) in a labor induced fetus with CHARGE syndrome","volume":"8","author":"Song","year":"2020","journal-title":"Mol Genet Genomic Med"},{"key":"2023092102150599000_107.10.1403.168","doi-asserted-by":"crossref","unstructured":"Lalani SR et al . SEMA3E mutation in a patient with charge syndrome. J Med Genet 2004;41:e94.doi:10.1136\/jmg.2003.017640","DOI":"10.1136\/jmg.2003.017640"},{"key":"2023092102150599000_107.10.1403.169","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-9926(199912)60:6<334::AID-TERA5>3.0.CO;2-S"},{"key":"2023092102150599000_107.10.1403.170","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1111\/j.1399-0004.1986.tb01258.x","article-title":"The spectrum of clinical features in charge syndrome","volume":"29","author":"Davenport","year":"1986","journal-title":"Clin Genet"},{"key":"2023092102150599000_107.10.1403.171","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980413)76:5<402::AID-AJMG7>3.0.CO;2-O"},{"key":"2023092102150599000_107.10.1403.172","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1002\/ajmg.a.34400","article-title":"Ophthalmic features of charge syndrome with CHD7 mutations","volume":"158A","author":"Nishina","year":"2012","journal-title":"Am J Med Genet A"},{"key":"2023092102150599000_107.10.1403.173","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.74.7.421"},{"key":"2023092102150599000_107.10.1403.174","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1016\/j.jaapos.2008.02.009","article-title":"Ocular features of charge syndrome","volume":"12","author":"McMain","year":"2008","journal-title":"J Aapos"},{"key":"2023092102150599000_107.10.1403.175","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.10581014"},{"key":"2023092102150599000_107.10.1403.176","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.61.11.5"},{"key":"2023092102150599000_107.10.1403.177","doi-asserted-by":"publisher","DOI":"10.1111\/j.1523-1755.2000.00358.x"},{"key":"2023092102150599000_107.10.1403.178","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102822"},{"key":"2023092102150599000_107.10.1403.179","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21401"},{"key":"2023092102150599000_107.10.1403.180","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(81)90571-4"},{"key":"2023092102150599000_107.10.1403.181","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2011.407"},{"key":"2023092102150599000_107.10.1403.182","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1007\/s00467-015-3184-5","article-title":"Long-Term treatment by ACE inhibitors and angiotensin receptor blockers in children with Alport syndrome","volume":"31","author":"Zhang","year":"2016","journal-title":"Pediatr Nephrol"},{"key":"2023092102150599000_107.10.1403.183","doi-asserted-by":"crossref","first-page":"4946","DOI":"10.3390\/jcm10214946","article-title":"Single, double and triple blockade of RaaS in Alport syndrome: different tools to freeze the evolution of the disease","volume":"10","author":"Mastrangelo","year":"2021","journal-title":"J Clin Med"},{"key":"2023092102150599000_107.10.1403.184","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-016-3452-z"},{"key":"2023092102150599000_107.10.1403.185","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1001\/jamaophthalmol.2013.1452","article-title":"Temporal macular thinning associated with X-linked Alport syndrome","volume":"131","author":"Ahmed","year":"2013","journal-title":"JAMA Ophthalmol"},{"key":"2023092102150599000_107.10.1403.186","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1097\/ICB.0b013e318296e174","article-title":"Autofluorescence and spectral domain OCT findings in Alport syndrome","volume":"7","author":"Randhawa","year":"2013","journal-title":"Retin Cases Brief Rep"},{"key":"2023092102150599000_107.10.1403.187","first-page":"473","article-title":"Optical coherence tomography angiography findings in patients with Alport syndrome","volume":"83","author":"Trancoso","year":"2020","journal-title":"Arq Bras Oftalmol"},{"key":"2023092102150599000_107.10.1403.188","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1080\/13816810.2016.1210648","article-title":"Bull\u2019s eye and pigment maculopathy are further retinal manifestations of an abnormal Bruch\u2019s membrane in Alport syndrome","volume":"38","author":"Savige","year":"2017","journal-title":"Ophthalmic Genet"},{"key":"2023092102150599000_107.10.1403.189","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1097\/ICB.0000000000000003","article-title":"Choroidal thinning and \"stair-case\" foveal sign in a patient with Alport syndrome","volume":"8","author":"Stanojcic","year":"2014","journal-title":"Retin Cases Brief Rep"},{"key":"2023092102150599000_107.10.1403.190","doi-asserted-by":"crossref","DOI":"10.1167\/tvst.11.3.23","article-title":"Characterization of Choriocapillaris and choroidal abnormalities in Alport syndrome","volume":"11","author":"Cicinelli","year":"2022","journal-title":"Transl Vis Sci Technol"},{"key":"2023092102150599000_107.10.1403.191","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1097\/01.ICB.0000279647.91700.b9","article-title":"Macular hole surgery in Alport syndrome","volume":"1","author":"Miller","year":"2007","journal-title":"Retin Cases Brief Rep"},{"key":"2023092102150599000_107.10.1403.192","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1159\/000513420","article-title":"Missing internal limiting membrane during macular hole repair in Alport syndrome","volume":"12","author":"Chaudhry","year":"2021","journal-title":"Case Rep Ophthalmol"},{"key":"2023092102150599000_107.10.1403.193","doi-asserted-by":"crossref","first-page":"075","DOI":"10.1055\/s-0041-1726017","article-title":"The association of vision, hearing, and Dual-Sensory loss with walking speed and incident slow walking: longitudinal and time to event analyses in the health and retirement study","volume":"42","author":"Shakarchi","year":"2021","journal-title":"Semin Hear"}],"container-title":["British Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bjo-2022-321790","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,21]],"date-time":"2023-09-21T09:18:53Z","timestamp":1695287933000},"score":1,"resource":{"primary":{"URL":"https:\/\/bjo.bmj.com\/lookup\/doi\/10.1136\/bjo-2022-321790"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,26]]},"references-count":193,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2023,9,21]]},"published-print":{"date-parts":[[2023,10]]}},"alternative-id":["10.1136\/bjo-2022-321790"],"URL":"https:\/\/doi.org\/10.1136\/bjo-2022-321790","relation":{},"ISSN":["0007-1161","1468-2079"],"issn-type":[{"value":"0007-1161","type":"print"},{"value":"1468-2079","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,26]]}}}