{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T09:56:10Z","timestamp":1771062970194,"version":"3.50.1"},"reference-count":28,"publisher":"Wiley","license":[{"start":{"date-parts":[[2022,4,6]],"date-time":"2022-04-06T00:00:00Z","timestamp":1649203200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008891","name":"Loma Linda University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008891","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2022,4,6]]},"abstract":"<jats:p>Purpose. To report a novel 11-cis retinol dehydrogenase gene (RDH5) variant discovered in a 57-year-old male with fundus albipunctatus (FA) complicated by severe macular atrophy. Methods. The patient was evaluated with a complete ophthalmic examination, optical coherence tomography (OCT), color fundus photography, green wavelength fundus autofluorescence, visual field testing, full-field ERG (ffERG), and multifocal ERG (mfERG). Genetic analysis investigating gene variants involved in inherited retinal disorders was performed. Results. The patient presented with a rapid decline in visual acuity and a history of poor night vision. On fundoscopy, he exhibited a phenotype characteristic of FA accompanied by severe macular atrophy bilaterally. Heterozygous variants in the RDH5 gene were identified, including a novel missense variant, c.814_815del (p.Leu272Aspfs<jats:inline-formula>\n                     <a:math xmlns:a=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\">\n                        <a:msup>\n                           <a:mrow\/>\n                           <a:mrow>\n                              <a:mi>\u2217<\/a:mi>\n                           <\/a:mrow>\n                        <\/a:msup>\n                     <\/a:math>\n                  <\/jats:inline-formula>63), and a known pathogenic nonsense variant, c.160C\u2009&gt;\u2009T (p.Arg54<jats:inline-formula>\n                     <c:math xmlns:c=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\">\n                        <c:msup>\n                           <c:mrow\/>\n                           <c:mrow>\n                              <c:mi>\u2217<\/c:mi>\n                           <\/c:mrow>\n                        <\/c:msup>\n                     <\/c:math>\n                  <\/jats:inline-formula>). Fundus autofluorescence demonstrated bull\u2019s eye maculopathy and hyperautofluorescent perifoveal rings bilaterally. OCT showed foveal atrophy of the outer retina and scattered hyper-reflective lesions in the peripheral macula. The ffERG results showed a severely diminished scotopic and photopic response. The mfERG results demonstrated minimal response in the central macula. Conclusions. Fundus albipunctatus is a rare, congenital form of stationary night blindness caused almost exclusively by the RDH5 gene. This patient\u2019s clinical presentation, diagnostic studies, and genetic testing confirmed the diagnosis of FA. Additionally, he exhibited severe macular atrophy, not typically found in FA. Two RDH5 gene variants were identified, one of which is the novel variant, c.814_815del (p.Leu272Aspfs<jats:inline-formula>\n                     <e:math xmlns:e=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M3\">\n                        <e:msup>\n                           <e:mrow\/>\n                           <e:mrow>\n                              <e:mi>\u2217<\/e:mi>\n                           <\/e:mrow>\n                        <\/e:msup>\n                     <\/e:math>\n                  <\/jats:inline-formula>63). We suggest that this RDH5 genotype may be associated with a more progressive phenotype of FA contributing to macular atrophy.<\/jats:p>","DOI":"10.1155\/2022\/1183772","type":"journal-article","created":{"date-parts":[[2022,4,6]],"date-time":"2022-04-06T21:05:06Z","timestamp":1649279106000},"page":"1-7","source":"Crossref","is-referenced-by-count":0,"title":["A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy"],"prefix":"10.1155","volume":"2022","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1408-1641","authenticated-orcid":true,"given":"Hyelin","family":"You","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Loma Linda University Eye Institute, Loma Linda, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3752-2390","authenticated-orcid":true,"given":"David","family":"Sierpina","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Loma Linda University Eye Institute, Loma Linda, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","first-page":"389","article-title":"Congenital stationary night blindness","volume-title":"Genetic Diseases of the Eye","author":"J. Heckenlively","year":"1998"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1016\/s0161-6420(90)32577-0"},{"key":"3","first-page":"350","volume-title":"Stereoscopic Atlas of Macular Diseases: Diagnosis and Treatment","author":"J. D. M. Gass","year":"1997","edition":"4th"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1016\/s0002-9394(00)00737-6"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1023\/a:1024498826904"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1016\/s0002-9394(03)00332-5"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2010.12.031"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-012-9336-z"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.04-0638"},{"key":"10","first-page":"1712","article-title":"Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients","volume":"18","author":"E. Pras","year":"2012","journal-title":"Molecular Vision"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-015-0281-x"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.61.3.53"},{"issue":"3","key":"13","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1074\/jbc.270.3.1107","article-title":"The retinal pigment epithelial-specific 11-cis retinol dehydrogenase belongs to the family of short chain alcohol dehydrogenases","volume":"270","author":"A. Simon","year":"1995","journal-title":"Journal of Biological Chemistry"},{"issue":"12","key":"14","first-page":"3925","article-title":"A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene","volume":"41","author":"M. Nakamura","year":"2000","journal-title":"Investigative Ophthalmology & Visual Science"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1007\/s00347-003-0895-y"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.119.7.1059"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1097\/IAE.0000000000000319"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M107337200"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-008-9151-8"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.121.7.1057-b"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1016\/s0002-9394(00)00765-0"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1097\/IAE.0b013e3181dc050a"},{"key":"23","first-page":"1558","article-title":"Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families","volume":"18","author":"M. Ajmal","year":"2012","journal-title":"Molecular Vision"},{"key":"24","doi-asserted-by":"publisher","DOI":"10.1016\/s0161-6420(01)00640-6"},{"key":"25","doi-asserted-by":"publisher","DOI":"10.1038\/srep13187"},{"key":"26","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2013.10.021"},{"key":"27","doi-asserted-by":"publisher","DOI":"10.1080\/13816810701663535"},{"key":"28","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-014-9473-7"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2022\/1183772.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2022\/1183772.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2022\/1183772.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,6]],"date-time":"2022-04-06T21:05:12Z","timestamp":1649279112000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crig\/2022\/1183772\/"}},"subtitle":[],"editor":[{"given":"Balraj","family":"Mittal","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2022,4,6]]},"references-count":28,"alternative-id":["1183772","1183772"],"URL":"https:\/\/doi.org\/10.1155\/2022\/1183772","relation":{},"ISSN":["2090-6552","2090-6544"],"issn-type":[{"value":"2090-6552","type":"electronic"},{"value":"2090-6544","type":"print"}],"subject":[],"published":{"date-parts":[[2022,4,6]]}}}