{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:06:21Z","timestamp":1760058381995,"version":"build-2065373602"},"reference-count":30,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2025,4,3]],"date-time":"2025-04-03T00:00:00Z","timestamp":1743638400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Science and Technology Program of Guangzhou, China","award":["SL2022A03J00452","[2024] 9","2023-394-39","BJ-LM2021014J"],"award-info":[{"award-number":["SL2022A03J00452","[2024] 9","2023-394-39","BJ-LM2021014J"]}]},{"name":"Higher Education Quality and Teaching Reform Construction Project for Undergraduate Education in Guangdong Province, China","award":["SL2022A03J00452","[2024] 9","2023-394-39","BJ-LM2021014J"],"award-info":[{"award-number":["SL2022A03J00452","[2024] 9","2023-394-39","BJ-LM2021014J"]}]},{"name":"Sun Yat-sen University\u2019s 2023 University-level Undergraduate Teaching Quality Engineering Project, China","award":["SL2022A03J00452","[2024] 9","2023-394-39","BJ-LM2021014J"],"award-info":[{"award-number":["SL2022A03J00452","[2024] 9","2023-394-39","BJ-LM2021014J"]}]},{"name":"Bethune\u2022Lumitin Research Funding for the young and middle-aged Ophthalmologists, China","award":["SL2022A03J00452","[2024] 9","2023-394-39","BJ-LM2021014J"],"award-info":[{"award-number":["SL2022A03J00452","[2024] 9","2023-394-39","BJ-LM2021014J"]}]},{"name":"Ophthalmology New Technology Incubation Fund","award":["SL2022A03J00452","[2024] 9","2023-394-39","BJ-LM2021014J"],"award-info":[{"award-number":["SL2022A03J00452","[2024] 9","2023-394-39","BJ-LM2021014J"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Stargardt disease (STGD1), the most common retinal dystrophy caused by pathogenic variants of the biallelic ABCA4 gene, results in irreversible vision loss. This cross-sectional case series study analyzes 18 unrelated Stargardt disease (STGD1) patients from southeast China, examining clinical and genetic features. Ophthalmological assessments included BCVA, ophthalmoscopy, fundus photography, and autofluorescence, with ultra-widefield OCT angiography carried out on one patient. Genetic testing uses targeted exome sequencing for eye disease genes. The mean age of onset was 44.3 years for adult onset (6 patients) and 9.6 years for childhood\/adolescent onset (12 patients). The mean logMAR visual acuity was 0.96 (right eye) and 0.91 (left eye). Eight novel ABCA4 variants were found, including two nonsense, two frameshift deletions, one copy number variant, one splice-site alternation, and two deep intronic variants. The genotypes are as follows: 77.8% (14\/18) biallelic heterozygous, 16.7% (3\/18) homozygous, and one patient with three variants. The study underscores STGD1\u2019s phenotypic and genotypic diversity, expands the ABCA4 mutation spectrum, and offers insights into therapeutic strategies.<\/jats:p>","DOI":"10.3390\/ijms26073354","type":"journal-article","created":{"date-parts":[[2025,4,4]],"date-time":"2025-04-04T06:52:56Z","timestamp":1743749576000},"page":"3354","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical and Genetic Characteristics of 18 Patients from Southeast China with ABCA4-Associated Stargardt Disease"],"prefix":"10.3390","volume":"26","author":[{"given":"Xinyu","family":"Liu","sequence":"first","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-4783-5885","authenticated-orcid":false,"given":"Zehao","family":"Liu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-3697-5987","authenticated-orcid":false,"given":"Jinli","family":"Cui","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Tan","sequence":"additional","affiliation":[{"name":"Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenmin","family":"Sun","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Lin","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,4,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1136\/jmg.40.9.641","article-title":"The genetics of inherited macular dystrophies","volume":"40","author":"Michaelides","year":"2003","journal-title":"J. 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