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The patient, despite not tolerating dietary treatment, had retained central vision over a follow-up period of 18 years. The electroretinogram, which normally diminishes with disease progression, was still nearly normal when last tested at 16 years follow-up. Genetic testing did not reveal any novel mutation that could account for this variation.<\/jats:p>","DOI":"10.1136\/bcr-2016-217556","type":"journal-article","created":{"date-parts":[[2018,2,6]],"date-time":"2018-02-06T02:25:16Z","timestamp":1517883916000},"page":"bcr-2016-217556","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Unique case of gyrate atrophy with a well-preserved electroretinogram (ERG)"],"prefix":"10.1136","volume":"2018","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1968-4281","authenticated-orcid":false,"given":"Kirti M","family":"Jasani","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Royal Bolton Hospital, Bolton, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil R A","family":"Parry","sequence":"additional","affiliation":[{"name":"Vision Science Centre, Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK"},{"name":"Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graeme","family":"Black","sequence":"additional","affiliation":[{"name":"Vision Science Centre, Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK"},{"name":"Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon P","family":"Kelly","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Royal Bolton Hospital, Bolton, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2018,2,5]]},"reference":[{"key":"2025082702524816000_2018.feb05_1.bcr-2016-217556.1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr.07.2010.3200"},{"key":"2025082702524816000_2018.feb05_1.bcr-2016-217556.2","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/S0161-6420(81)35031-3","article-title":"The natural history of gyrate atrophy of the choroid and retina","volume":"88","author":"Takki","year":"1981","journal-title":"Ophthalmology"},{"key":"2025082702524816000_2018.feb05_1.bcr-2016-217556.3","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.03-0403"},{"key":"2025082702524816000_2018.feb05_1.bcr-2016-217556.4","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.74.6.363"},{"key":"2025082702524816000_2018.feb05_1.bcr-2016-217556.5","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/S0161-6420(00)00587-X","article-title":"Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase","volume":"108","author":"Peltola","year":"2001","journal-title":"Ophthalmology"},{"key":"2025082702524816000_2018.feb05_1.bcr-2016-217556.6","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-012-9335-0"},{"key":"2025082702524816000_2018.feb05_1.bcr-2016-217556.7","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1002\/humu.22233","article-title":"Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina","volume":"34","author":"Doimo","year":"2013","journal-title":"Hum Mutat"},{"key":"2025082702524816000_2018.feb05_1.bcr-2016-217556.8","doi-asserted-by":"crossref","first-page":"2753","DOI":"10.1172\/JCI118730","article-title":"A mouse model of gyrate atrophy of the choroid and retina. 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