{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T00:01:36Z","timestamp":1769126496424,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,12,25]],"date-time":"2025-12-25T00:00:00Z","timestamp":1766620800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,12,25]],"date-time":"2025-12-25T00:00:00Z","timestamp":1766620800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Inherited retinal dystrophies are a complex group of disorders causing progressive vision loss. The\n                    <jats:italic>ABCA4<\/jats:italic>\n                    gene is associated with a wide spectrum of retinopathies, most commonly Stargardt disease, which is characterized by central macular degeneration. Retinitis Pigmentosa (RP) is a less common but recognized\n                    <jats:italic>ABCA4<\/jats:italic>\n                    \u2010associated phenotype, typically involving severe, pan\u2010retinal degeneration. A 25\u2010year\u2010old male presented with a 5\u2010year history of nyctalopia and progressive peripheral visual field loss. Best\u2010corrected visual acuity was 1\/20 in the right eye and 20\/20 in the left eye. Fundus examination revealed pale optic discs, attenuated retinal arteries, and peripheral bone spicule\u2010like pigment deposits, with notable sparing of the macula. Genetic analysis identified compound heterozygous variants in the\n                    <jats:italic>ABCA4<\/jats:italic>\n                    gene: a known pathogenic variant, c.4793C&gt;A (p.Ala1598Asp), inherited from his father, and a novel variant, c.1769A&gt;G (p.Asp590Gly), inherited from his mother. The novel variant was re\u2010evaluated according to ACMG\/AMP guidelines and classified as likely pathogenic based on its absence in population databases, co\u2010segregation with disease, and high\n                    <jats:italic>in silico<\/jats:italic>\n                    prediction scores. This case presents a diagnostic challenge, with a clinical phenotype of macular sparing RP and strong genetic evidence implicating\n                    <jats:italic>ABCA4<\/jats:italic>\n                    . These findings expand the potential phenotypic spectrum of\n                    <jats:italic>ABCA4<\/jats:italic>\n                    \u2010retinopathy and underscore the critical role of genetic testing in diagnosing patients with atypical presentations of inherited retinal disease. Further investigation is needed to fully elucidate the pathogenic mechanism of the novel variant and its contribution to this unusual clinical picture.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.71545","type":"journal-article","created":{"date-parts":[[2025,12,25]],"date-time":"2025-12-25T15:46:41Z","timestamp":1766677601000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Atypical Retinitis Pigmentosa With Macular Sparing in a Patient With Compound Heterozygous\n                    <i>ABCA4<\/i>\n                    Variants: A Case Report and Diagnostic Challenge"],"prefix":"10.1002","volume":"14","author":[{"given":"Na","family":"Li","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Sanmenxia Eye Hospital\/Sanmenxia Central Hospital Henan University of Science and Technology  Sanmenxia China"},{"name":"Henan International Joint Laboratory of Outflow Engineering, Sanmenxia Central Hospital Henan University of Science and Technology  Sanmenxia China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2194-6375","authenticated-orcid":false,"given":"Yalong","family":"Dang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Sanmenxia Eye Hospital\/Sanmenxia Central Hospital Henan University of Science and Technology  Sanmenxia China"},{"name":"Henan International Joint Laboratory of Outflow Engineering, Sanmenxia Central Hospital Henan University of Science and Technology  Sanmenxia China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,25]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/APO.0000000000000290"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12325-021-02036-7"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx185"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.4103\/ijo.IJO_46_22"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.apcsb.2024.12.003"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10863-007-9118-6"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2021.101036"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000540361"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1042\/BSR20203497"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.30249"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-021-81093-y"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes14020291"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20194854"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2015.11.011"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.15-17629"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.71545","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.71545","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.71545","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T07:17:19Z","timestamp":1769066239000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.71545"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,25]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1002\/ccr3.71545"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.71545","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,25]]},"assertion":[{"value":"2025-06-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-11-20","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-25","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e71545"}}