{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T04:51:39Z","timestamp":1777438299910,"version":"3.51.4"},"reference-count":19,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2018,2,28]]},"abstract":"<jats:p>This case report depicts the clinical course of a female patient with unilateral retinitis pigmentosa, who first presented at the age of 12 years. Fundus photography at the time revealed unilateral pigmentary retinopathy, which was associated with extinguished electroretinogram (ERG) signal. At 35 years of age, fundus examination revealed deterioration of pre-existing unilateral pigmentary retinopathy with progressive visual field defect detected on Goldmann visual field testing. ERG findings remained unchanged and multifocal ERG showed unilateral decrease in amplitude in the affected eye. The patient was referred for genetic counselling. Next-generation sequencing identified a deleterious heterozygous c.118T&gt;G (p.Cys40Gly) mutation in the <jats:italic>CLRN1<\/jats:italic> gene.<\/jats:p>","DOI":"10.1136\/bcr-2017-222045","type":"journal-article","created":{"date-parts":[[2018,3,15]],"date-time":"2018-03-15T09:35:20Z","timestamp":1521106520000},"page":"bcr-2017-222045","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":7,"title":["Unilateral retinitis pigmentosa occurring in an individual with a mutation in the <i>CLRN1<\/i> gene"],"prefix":"10.1136","volume":"2018","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5500-2634","authenticated-orcid":false,"given":"Peng Yong","family":"Sim","sequence":"first","affiliation":[{"name":"The University of Edinburgh, Edinburgh, UK"},{"name":"Royal Free Hospital, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V Swetha E","family":"Jeganathan","sequence":"additional","affiliation":[{"name":"The University of Michigan, Ann Arbor, Michigan, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan F.","family":"Wright","sequence":"additional","affiliation":[{"name":"MRC Institute of Genetics and Molecular Medicine, The University of Edinburgh, Edinburgh, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Cackett","sequence":"additional","affiliation":[{"name":"Princess Alexandra Eye Pavilion, Edinburgh, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,3,15]]},"reference":[{"key":"2025082702024497000_2018.mar15_1.bcr-2017-222045.1","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1111\/j.1755-3768.1948.tb07596.x","article-title":"Unilateral retinitis pigmentosa; two cases","volume":"26","author":"Dreisler","year":"1948","journal-title":"Acta Ophthalmol"},{"key":"2025082702024497000_2018.mar15_1.bcr-2017-222045.2","doi-asserted-by":"crossref","first-page":"263","DOI":"10.2147\/OPTH.S5130","article-title":"Unilateral retinitis pigmentosa and cone-rod dystrophy","volume":"3","author":"Farrell","year":"2009","journal-title":"Clin Ophthalmol"},{"key":"2025082702024497000_2018.mar15_1.bcr-2017-222045.3","doi-asserted-by":"publisher","DOI":"10.1007\/s00417-006-0313-7"},{"key":"2025082702024497000_2018.mar15_1.bcr-2017-222045.4","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1111\/j.1444-0938.2009.00435.x","article-title":"Unilateral retinitis pigmentosa","volume":"93","author":"Thakur","year":"2010","journal-title":"Clin Exp Optom"},{"key":"2025082702024497000_2018.mar15_1.bcr-2017-222045.5","doi-asserted-by":"publisher","DOI":"10.1001\/archophthalmol.2011.171"},{"key":"2025082702024497000_2018.mar15_1.bcr-2017-222045.6","doi-asserted-by":"publisher","DOI":"10.5301\/ejo.5000086"},{"key":"2025082702024497000_2018.mar15_1.bcr-2017-222045.7","doi-asserted-by":"crossref","unstructured":"Ellingford JM , Barton S , Bhaskar S , et al . Molecular findings from 537 individuals with inherited retinal disease. J Med Genet 2016:761\u20137.doi:10.1136\/jmedgenet-2016-103837","DOI":"10.1136\/jmedgenet-2016-103837"},{"key":"2025082702024497000_2018.mar15_1.bcr-2017-222045.8","first-page":"115","article-title":"Retinitis pigmentosa and allied disorders","volume":"6","author":"Sharma","year":"2004","journal-title":"JK Sci"},{"key":"2025082702024497000_2018.mar15_1.bcr-2017-222045.9","doi-asserted-by":"publisher","DOI":"10.1159\/000139962"},{"key":"2025082702024497000_2018.mar15_1.bcr-2017-222045.10","first-page":"1081","article-title":"Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing","volume":"14","author":"Neidhardt","year":"2008","journal-title":"Mol Vis"},{"key":"2025082702024497000_2018.mar15_1.bcr-2017-222045.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2015.05.039"},{"key":"2025082702024497000_2018.mar15_1.bcr-2017-222045.12","doi-asserted-by":"crossref","first-page":"1444","DOI":"10.1016\/j.ophtha.2010.10.047","article-title":"CLRN1 mutations cause nonsyndromic retinitis pigmentosa","volume":"118","author":"Khan","year":"2011","journal-title":"Ophthalmology"},{"key":"2025082702024497000_2018.mar15_1.bcr-2017-222045.13","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1038\/ejhg.2010.140","article-title":"Alternative splice variants of the USH3A gene Clarin 1 (CLRN1)","volume":"19","author":"V\u00e4stinsalo","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"2025082702024497000_2018.mar15_1.bcr-2017-222045.14","first-page":"3070","article-title":"Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3","volume":"18","author":"Garc\u00eda-Garc\u00eda","year":"2012","journal-title":"Mol Vis"},{"key":"2025082702024497000_2018.mar15_1.bcr-2017-222045.15","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00352.x"},{"key":"2025082702024497000_2018.mar15_1.bcr-2017-222045.16","doi-asserted-by":"crossref","first-page":"3095","DOI":"10.1002\/ajmg.a.36188","article-title":"Embryonic left-right separation mechanism allows confinement of mutation-induced phenotypes to one lateral body half of bilaterians","volume":"161A","author":"Ma","year":"2013","journal-title":"Am J Med Genet A"},{"key":"2025082702024497000_2018.mar15_1.bcr-2017-222045.17","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1331-2"},{"key":"2025082702024497000_2018.mar15_1.bcr-2017-222045.18","doi-asserted-by":"publisher","DOI":"10.2174\/138920211795860107"},{"key":"2025082702024497000_2018.mar15_1.bcr-2017-222045.19","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22045"}],"updated-by":[{"DOI":"10.1136\/bcr-2017-222045corr1","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2018,4,28]],"date-time":"2018-04-28T00:00:00Z","timestamp":1524873600000}}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2017-222045","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T09:02:57Z","timestamp":1756285377000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2017-222045"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3,15]]},"references-count":19,"alternative-id":["10.1136\/bcr-2017-222045"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2017-222045","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,3,15]]}}}