{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T16:20:17Z","timestamp":1773764417440,"version":"3.50.1"},"reference-count":48,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2020,11,27]],"date-time":"2020-11-27T00:00:00Z","timestamp":1606435200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005762","name":"National Taiwan University Hospital","doi-asserted-by":"publisher","award":["104-N2877, 106-N3630, 108-N04, and MQ4247"],"award-info":[{"award-number":["104-N2877, 106-N3630, 108-N04, and MQ4247"]}],"id":[{"id":"10.13039\/501100005762","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The ABCA4 gene is one of the most common disease-causing genes of inherited retinal degeneration. In this study, we report different phenotypes of ABCA4-associated retinal dystrophies in the Taiwanese population, its clinical progression, and its relationship with genetic characteristics. Thirty-seven subjects were recruited and all patients underwent serial ophthalmic examinations at a single medical center. Fundus autofluorescence (FAF) images were quantified for clinical evaluation, and panel-based next-generation sequencing testing was performed for genetic diagnosis. Visual preservation, disease progression, and genotype\u2013phenotype correlation were analyzed. In this cohort, ABCA4-associated retinal degeneration presented as Stargardt disease 1 (STGD1, 62.16%), retinitis pigmentosa (32.43%), and cone-rod dystrophy (5.41%). STGD1 could be further divided into central and dispersed types. In each phenotype, the lesion areas quantified by FAF increased with age (p &lt; 0.01) and correlated with poorer visual acuity. However, three patients had the foveal sparing phenotype and had relatively preserved visual acuity. Forty-two ABCA4 variants were identified as disease-causing, with c.1804C&gt;T (p.Arg602Trp) the most frequent (37.84%). Patients with a combination of severe\/null variants could have more extensive phenotypes, such as arRP and dispersed STGD1. This is the first cohort study of ABCA4-associated retinal degeneration in Taiwan with wide spectrums of both genotypic and phenotypic characteristics. An extremely high prevalence of c.1804C&gt;T, which has not been reported in East Asia before, was noted. The extensiveness of retinal involvement might be regarded as a spectrum of ABCA4-associated retinal dystrophies. Different types of genetic variations could lead to distinctive phenotypes, according to the coding impact of variants.<\/jats:p>","DOI":"10.3390\/genes11121421","type":"journal-article","created":{"date-parts":[[2020,11,28]],"date-time":"2020-11-28T03:51:16Z","timestamp":1606535476000},"page":"1421","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Genotypes Predispose Phenotypes\u2014Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies"],"prefix":"10.3390","volume":"11","author":[{"given":"Yu-Chi","family":"Sung","sequence":"first","affiliation":[{"name":"Department of Medical Education, National Taiwan University Hospital, Taipei 100, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang-Hao","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, National Taiwan University Hospital, Taipei 100, Taiwan"},{"name":"Department of Ophthalmology, College of Medicine, National Taiwan University, Taipei 100, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chung-May","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, National Taiwan University Hospital, Taipei 100, Taiwan"},{"name":"Department of Ophthalmology, College of Medicine, National Taiwan University, Taipei 100, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chao-Wen","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, National Taiwan University Hospital, Taipei 100, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3276-4817","authenticated-orcid":false,"given":"Ding-Siang","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, National Taiwan University Hospital, Taipei 100, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Shu","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, National Taiwan University Hospital, Taipei 100, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fung-Rong","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, National Taiwan University Hospital, Taipei 100, Taiwan"},{"name":"Department of Ophthalmology, College of Medicine, National Taiwan University, Taipei 100, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5640-3074","authenticated-orcid":false,"given":"Pei-Lung","family":"Chen","sequence":"additional","affiliation":[{"name":"Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei 100, Taiwan"},{"name":"Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei 100, Taiwan"},{"name":"Department of Medical Genetics, National Taiwan University Hospital, Taipei 100, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4358-6585","authenticated-orcid":false,"given":"Ta-Ching","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, National Taiwan University Hospital, Taipei 100, Taiwan"},{"name":"Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei 100, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,11,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"5320","DOI":"10.1167\/iovs.17-22158","article-title":"A Computational Approach From Gene to Structure Analysis of the Human ABCA4 Transporter Involved in Genetic Retinal Diseases","volume":"58","author":"Trezza","year":"2017","journal-title":"Investig. 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