{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T23:33:42Z","timestamp":1787614422820,"version":"build-2736575974"},"reference-count":37,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2017,7,1]],"date-time":"2017-07-01T00:00:00Z","timestamp":1498867200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","aaojournal.org","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Ophthalmology"],"published-print":{"date-parts":[[2017,7]]},"DOI":"10.1016\/j.ophtha.2017.03.010","type":"journal-article","created":{"date-parts":[[2017,4,13]],"date-time":"2017-04-13T14:30:46Z","timestamp":1492093846000},"page":"992-1003","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":41,"title":["Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma"],"prefix":"10.1016","volume":"124","author":[{"given":"Laurence H.M.","family":"Pierrache","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adva","family":"Kimchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rinki","family":"Ratnapriya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Roberts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Galuh D.N.","family":"Astuti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexey","family":"Obolensky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Avigail","family":"Beryozkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martha J.H.","family":"Tjon-Fo-Sang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose","family":"Schuil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline C.W.","family":"Klaver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ernie M.H.F.","family":"Bongers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3595-0797","authenticated-orcid":false,"given":"Lonneke","family":"Haer-Wigman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicoline","family":"Schalij","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martijn H.","family":"Breuning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gratia M.","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eyal","family":"Banin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raj S.","family":"Ramesar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anand","family":"Swaroop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. Ingeborgh","family":"van den Born","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1789-5811","authenticated-orcid":false,"given":"Dror","family":"Sharon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frans P.M.","family":"Cremers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"233","key":"10.1016\/j.ophtha.2017.03.010_bib1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1046\/j.1395-3907.2002.00001.x","article-title":"Epidemiology of retinitis pigmentosa in Denmark","author":"Haim","year":"2002","journal-title":"Acta Ophthalmol Scand Suppl"},{"issue":"3","key":"10.1016\/j.ophtha.2017.03.010_bib2","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/S0002-9394(14)71358-3","article-title":"The prevalence of retinitis pigmentosa and congenital stationary night blindness in Israel","volume":"116","author":"Rosner","year":"1993","journal-title":"Am J Ophthalmol"},{"issue":"4","key":"10.1016\/j.ophtha.2017.03.010_bib3","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1111\/j.1399-0004.1987.tb02804.x","article-title":"Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway","volume":"31","author":"Grondahl","year":"1987","journal-title":"Clin Genet"},{"issue":"3","key":"10.1016\/j.ophtha.2017.03.010_bib4","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/0002-9394(84)90636-6","article-title":"Prevalence of retinitis pigmentosa in Maine","volume":"97","author":"Bunker","year":"1984","journal-title":"Am J Ophthalmol"},{"issue":"9549","key":"10.1016\/j.ophtha.2017.03.010_bib5","doi-asserted-by":"crossref","first-page":"1795","DOI":"10.1016\/S0140-6736(06)69740-7","article-title":"Retinitis pigmentosa","volume":"368","author":"Hartong","year":"2006","journal-title":"Lancet"},{"issue":"10","key":"10.1016\/j.ophtha.2017.03.010_bib6","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1001\/archopht.1985.01050100078023","article-title":"Classification of congenital and early onset retinitis pigmentosa","volume":"103","author":"Foxman","year":"1985","journal-title":"Arch Ophthalmol"},{"key":"10.1016\/j.ophtha.2017.03.010_bib7","doi-asserted-by":"crossref","first-page":"13187","DOI":"10.1038\/srep13187","article-title":"Whole exome sequencing reveals mutations in known retinal disease genes in 33 out of 68 Israeli families with inherited retinopathies","volume":"5","author":"Beryozkin","year":"2015","journal-title":"Sci Rep"},{"issue":"6","key":"10.1016\/j.ophtha.2017.03.010_bib8","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1038\/gim.2015.127","article-title":"Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies","volume":"18","author":"Patel","year":"2016","journal-title":"Genet Med"},{"key":"10.1016\/j.ophtha.2017.03.010_bib9","doi-asserted-by":"crossref","first-page":"28755","DOI":"10.1038\/srep28755","article-title":"Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies","volume":"6","author":"Tiwari","year":"2016","journal-title":"Sci Rep"},{"issue":"2","key":"10.1016\/j.ophtha.2017.03.010_bib10","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/s00439-014-1512-7","article-title":"Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland","volume":"134","author":"Zhao","year":"2015","journal-title":"Hum Genet"},{"issue":"10","key":"10.1016\/j.ophtha.2017.03.010_bib11","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1136\/jmedgenet-2013-101558","article-title":"Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing","volume":"50","author":"Wang","year":"2013","journal-title":"J\u00a0Med Genet"},{"issue":"13","key":"10.1016\/j.ophtha.2017.03.010_bib12","first-page":"3742","article-title":"Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)","volume":"24","author":"Haer-Wigman","year":"2015","journal-title":"Hum Mol Genet"},{"issue":"7","key":"10.1016\/j.ophtha.2017.03.010_bib13","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1038\/ng.3319","article-title":"Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia","volume":"47","author":"Kohl","year":"2015","journal-title":"Nat Genet"},{"issue":"8","key":"10.1016\/j.ophtha.2017.03.010_bib14","doi-asserted-by":"crossref","first-page":"1620","DOI":"10.1016\/j.ophtha.2014.02.008","article-title":"Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration","volume":"121","author":"Nishiguchi","year":"2014","journal-title":"Ophthalmology"},{"issue":"2","key":"10.1016\/j.ophtha.2017.03.010_bib15","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.ajhg.2014.06.012","article-title":"Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy","volume":"95","author":"Roosing","year":"2014","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.ophtha.2017.03.010_bib16","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/S0167-4781(98)00087-6","article-title":"Sequences and expression of six new members of the tetraspanin\/TM4SF family","volume":"1399","author":"Todd","year":"1998","journal-title":"Biochim Biophys Acta"},{"issue":"2","key":"10.1016\/j.ophtha.2017.03.010_bib17","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1515\/CCLM.2000.025","article-title":"Unravelling genetic data by arrayed primer extension","volume":"38","author":"Tonisson","year":"2000","journal-title":"Clin Chem Lab Med"},{"issue":"14","key":"10.1016\/j.ophtha.2017.03.010_bib18","doi-asserted-by":"crossref","first-page":"6374","DOI":"10.1167\/iovs.16-19785","article-title":"Molecular diagnosis of inherited retinal diseases in indigenous African populations by whole-exome sequencing","volume":"57","author":"Roberts","year":"2016","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"Pt 1","key":"10.1016\/j.ophtha.2017.03.010_bib19","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1042\/bj3080063","article-title":"Characterization of a cDNA clone for human NAD(+)-specific isocitrate dehydrogenase alpha-subunit and structural comparison with its\u00a0isoenzymes from different species","volume":"308","author":"Kim","year":"1995","journal-title":"Biochem J"},{"issue":"1","key":"10.1016\/j.ophtha.2017.03.010_bib20","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1007\/s10048-016-0507-z","article-title":"Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy","volume":"18","author":"Fattal-Valevski","year":"2017","journal-title":"Neurogenetics"},{"issue":"6","key":"10.1016\/j.ophtha.2017.03.010_bib21","doi-asserted-by":"crossref","first-page":"1975","DOI":"10.1086\/302926","article-title":"Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss","volume":"66","author":"Rivolta","year":"2000","journal-title":"Am J Hum Genet"},{"issue":"11","key":"10.1016\/j.ophtha.2017.03.010_bib22","doi-asserted-by":"crossref","first-page":"1425","DOI":"10.1001\/archophthalmol.2012.2434","article-title":"BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome","volume":"130","author":"Estrada-Cuzcano","year":"2012","journal-title":"Arch Ophthalmol"},{"issue":"5","key":"10.1016\/j.ophtha.2017.03.010_bib23","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1016\/j.ajhg.2010.04.001","article-title":"A\u00a0splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa","volume":"86","author":"Riazuddin","year":"2010","journal-title":"Am J Hum Genet"},{"issue":"3","key":"10.1016\/j.ophtha.2017.03.010_bib24","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1001\/jamaophthalmol.2014.5251","article-title":"Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa","volume":"133","author":"Shevach","year":"2015","journal-title":"JAMA Ophthalmol"},{"key":"10.1016\/j.ophtha.2017.03.010_bib25","doi-asserted-by":"crossref","first-page":"12444","DOI":"10.1038\/ncomms12444","article-title":"Novel gene function revealed by mouse mutagenesis screens for models of age-related disease","volume":"7","author":"Potter","year":"2016","journal-title":"Nat Commun"},{"issue":"10","key":"10.1016\/j.ophtha.2017.03.010_bib26","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1038\/ng.223","article-title":"Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle","volume":"40","author":"Hartong","year":"2008","journal-title":"Nat Genet"},{"issue":"116","key":"10.1016\/j.ophtha.2017.03.010_bib27","article-title":"Typisches, beiderseitiges hereditares Makula Kolobom","volume":"67","author":"Clausen","year":"1921","journal-title":"Klin Monbl Augenheilkd"},{"issue":"9","key":"10.1016\/j.ophtha.2017.03.010_bib28","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1038\/ng.2356","article-title":"Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration","volume":"44","author":"Koenekoop","year":"2012","journal-title":"Nat Genet"},{"issue":"9","key":"10.1016\/j.ophtha.2017.03.010_bib29","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1038\/ng.2370","article-title":"Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis","volume":"44","author":"Chiang","year":"2012","journal-title":"Nat Genet"},{"issue":"9","key":"10.1016\/j.ophtha.2017.03.010_bib30","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1038\/ng.2357","article-title":"Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy","volume":"44","author":"Perrault","year":"2012","journal-title":"Nat Genet"},{"issue":"9","key":"10.1016\/j.ophtha.2017.03.010_bib31","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1038\/ng.2361","article-title":"NMNAT1 mutations cause Leber congenital amaurosis","volume":"44","author":"Falk","year":"2012","journal-title":"Nat Genet"},{"issue":"7","key":"10.1016\/j.ophtha.2017.03.010_bib32","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1136\/jmedgenet-2014-102316","article-title":"A\u00a0missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma","volume":"51","author":"Ajmal","year":"2014","journal-title":"J\u00a0Med Genet"},{"issue":"7","key":"10.1016\/j.ophtha.2017.03.010_bib33","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.1016\/j.ophtha.2010.10.041","article-title":"Thirty-year follow-up of an African American family with macular dystrophy of the retina, locus 1 (North Carolina macular dystrophy)","volume":"118","author":"Kiernan","year":"2011","journal-title":"Ophthalmology"},{"key":"10.1016\/j.ophtha.2017.03.010_bib34","first-page":"1","article-title":"North Carolina macular dystrophy phenotype in France maps to the MCDR1 locus","volume":"3","author":"Small","year":"1997","journal-title":"Mol Vis"},{"issue":"7","key":"10.1016\/j.ophtha.2017.03.010_bib35","doi-asserted-by":"crossref","first-page":"1925","DOI":"10.1016\/j.ajpath.2016.03.013","article-title":"Mouse models of NMNAT1-Leber Congenital Amaurosis (LCA9) recapitulate key features of the human disease","volume":"186","author":"Greenwald","year":"2016","journal-title":"Am J Pathol"},{"issue":"5","key":"10.1016\/j.ophtha.2017.03.010_bib36","doi-asserted-by":"crossref","first-page":"2171","DOI":"10.1167\/iovs.02-0871","article-title":"Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa","volume":"44","author":"Mart\u00ednez-Gimeno","year":"2003","journal-title":"Invest Ophthalmol Vis Sci."},{"issue":"3","key":"10.1016\/j.ophtha.2017.03.010_bib37","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1002\/humu.22481","article-title":"Retinitis pigmentosa mutations of SNRNP200 enhance cryptic splice-site recognition","volume":"35","author":"Cva\u010dkov\u00e1","year":"2014","journal-title":"Hum Mutat"}],"container-title":["Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0161642016322308?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0161642016322308?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T03:49:09Z","timestamp":1692762549000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0161642016322308"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7]]},"references-count":37,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2017,7]]}},"alternative-id":["S0161642016322308"],"URL":"https:\/\/doi.org\/10.1016\/j.ophtha.2017.03.010","relation":{},"ISSN":["0161-6420"],"issn-type":[{"value":"0161-6420","type":"print"}],"subject":[],"published":{"date-parts":[[2017,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma","name":"articletitle","label":"Article Title"},{"value":"Ophthalmology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ophtha.2017.03.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 by the American Academy of Ophthalmology","name":"copyright","label":"Copyright"}]}}