{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T16:26:02Z","timestamp":1783441562943,"version":"3.54.6"},"reference-count":10,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T00:00:00Z","timestamp":1778803200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T00:00:00Z","timestamp":1778803200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Ophthalmol"],"abstract":"<jats:p>Introduction: C19ORF44 has recently been identified as a gene associated with autosomal recessive inherited retinal disease (IRD). The function of the gene remains poorly understood, and a previously reported case with identical primary genotype demonstrated a Stargardt-like macular dystrophy phenotype. Case Presentation: We describe a 65-year-old Chinese female with long-standing nyctalopia and progressive visual field loss. Multimodal retinal imaging demonstrated a peripheral-predominant retinitis pigmentosa phenotype with relative macular sparing, distinct from the previously reported Stargardt-like macular dystrophy associated with the same genotype. Genetic testing identified compound heterozygous stop-gain and frameshift deletion variants in C19ORF44, both predicted to result in loss of function. Conclusion: This case demonstrates that identical genotypes (biallelic loss-of-function variants in C19ORF44) can result in markedly different retinal phenotypes, highlighting substantial genotype-phenotype variability in this newly described IRD.<\/jats:p>","DOI":"10.1159\/000552545","type":"journal-article","created":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T16:00:51Z","timestamp":1778860851000},"page":"625-631","source":"Crossref","is-referenced-by-count":0,"title":["Phenotypic Divergence in C19ORF44-Associated Retinal Degeneration despite an Identical Genotype: A Case Report"],"prefix":"10.1159","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5608-6865","authenticated-orcid":false,"given":"Lucas Yan Bin","family":"Ng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9841-4433","authenticated-orcid":false,"given":"Mathieu","family":"Quinodoz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tien-En","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachael W.C.","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Rivolta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beau J.","family":"Fenner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2026,5,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111\/ceo.13917"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2025.08.017"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s12687-020-00500-5"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2025.101401"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg-2025-110681"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2022.878350"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.15252\/embj.2018100811"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003040"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.14319"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.4103\/1673-5374.369098"}],"container-title":["Case Reports in Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000552545","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T16:01:52Z","timestamp":1783440112000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000552545"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,15]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000552545","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.32297724","asserted-by":"subject"}]},"ISSN":["1663-2699"],"issn-type":[{"value":"1663-2699","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,15]]}}}