{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:41:22Z","timestamp":1760740882378,"version":"build-2065373602"},"reference-count":40,"publisher":"BMJ","issue":"9","license":[{"start":{"date-parts":[[2023,1,23]],"date-time":"2023-01-23T00:00:00Z","timestamp":1674432000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100011912","name":"Taipei Veterans General Hospital","doi-asserted-by":"publisher","award":["V110C-020, V111C-127"],"award-info":[{"award-number":["V110C-020, V111C-127"]}],"id":[{"id":"10.13039\/501100011912","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Ministry of Science and Technology","award":["MOST107-2314-B-010-042","MOST109-2314-B-010-013"],"award-info":[{"award-number":["MOST107-2314-B-010-042","MOST109-2314-B-010-013"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2023,1,2]]},"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Hereditary maculopathy is a group of clinically and genetically heterogeneous disorders. With distinctive clinical features, subtypes of macular atrophy may correlate with their genetic defects.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Seven patients from six families with adolescent\/adult-onset maculopathy were examined in this clinical case series. A detailed medical history and eye examination were performed. Genomic DNA sequencing was performed using whole exome sequencing or direct sequencing of retinol dehydrogenase 12 (<jats:italic>RDH12<\/jats:italic>) coding exons.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Seven patients, including one male and six female patients, with pseudocoloboma-like maculopathy had biallelic missense <jats:italic>RDH12<\/jats:italic> mutations. The most common mutant allele found in six of the seven patients was p.Ala269Gly. The average disease onset was at age 19.3 years, and visual acuity ranged from count fingers to 1.0. Most of the patients had mild myopic refraction. Common findings on fundus examination and spectral-domain optical coherence tomography include discrete margins of pseudocoloboma-like macular lesions with variable degrees of chorioretinal atrophy, excavation of retinal tissue and pigmentary changes mainly in the macular area. The electroretinograms were relatively normal to subnormal in all participants.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Progressive macular degeneration with a relatively normal peripheral retina and subsequent development of a pseudocoloboma-like appearance were the main clinical features in patients with compound heterozygous <jats:italic>RDH12<\/jats:italic> missense mutations. Genetic testing may be crucial for early diagnosis and may play a key role in the development of future treatment strategies.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg-2022-108918","type":"journal-article","created":{"date-parts":[[2023,1,23]],"date-time":"2023-01-23T13:21:04Z","timestamp":1674480064000},"page":"859-865","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Pseudocoloboma-like maculopathy with biallelic <i>RDH12<\/i> missense mutations"],"prefix":"10.1136","volume":"60","author":[{"given":"Che-Yuan","family":"Kuo","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan"},{"name":"Department of Ophthalmology, National Yang Ming Chiao Tung University, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2198-6860","authenticated-orcid":false,"given":"Ming-Yi","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Life Sciences & Institute of Genome Sciences, National Yang Ming Chiao Tung University, Taipei, Taiwan"},{"name":"Department of Medical Research, Taipei Veterans General Hospital, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shih-Jen","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan"},{"name":"Department of Ophthalmology, National Yang Ming Chiao Tung University, Taipei, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,1,23]]},"reference":[{"key":"2025101715085610000_60.9.859.1","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a017111","article-title":"Clinical characteristics and current therapies for inherited retinal degenerations","volume":"5","author":"Sahel","year":"2015","journal-title":"Cold Spring Harb Perspect Med"},{"key":"2025101715085610000_60.9.859.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2010.08.013"},{"key":"2025101715085610000_60.9.859.3","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M608375200"},{"key":"2025101715085610000_60.9.859.4","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050825"},{"key":"2025101715085610000_60.9.859.5","doi-asserted-by":"publisher","DOI":"10.1097\/IAE.0000000000002242"},{"key":"2025101715085610000_60.9.859.6","unstructured":"Li H . 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