{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T09:45:39Z","timestamp":1784627139988,"version":"3.55.0"},"reference-count":54,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T00:00:00Z","timestamp":1718064000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The retinal features of Bardet\u2013Biedl syndrome (BBS) are insufficiently characterized in Arab populations. This retrospective study investigated the retinal features and genotypes of BBS in Saudi patients managed at a single tertiary eye care center. Data analysis of the identified 46 individuals from 31 families included visual acuity (VA), systemic manifestations, multimodal retinal imaging, electroretinography (ERG), family pedigrees, and genotypes. Patients were classified to have cone\u2013rod, rod\u2013cone, or generalized photoreceptor dystrophy based on the pattern of macular involvement on the retinal imaging. Results showed that nyctalopia and subnormal VA were the most common symptoms with 76% having VA \u2264 20\/200 at the last visit (age: 5\u201335). Systemic features included obesity 91%, polydactyly 56.5%, and severe cognitive impairment 33%. The predominant retinal phenotype was cone\u2013rod dystrophy 75%, 10% had rod\u2013cone dystrophy and 15% had generalized photoreceptor dystrophy. ERGs were undetectable in 95% of patients. Among the 31 probands, 61% had biallelic variants in BBSome complex genes, 32% in chaperonin complex genes, and 6% had biallelic variants in ARL6; including six previously unreported variants. Interfamilial and intrafamilial variabilities were noted, without a clear genotype\u2013phenotype correlation. Most BBS patients had advanced retinopathy and were legally blind by early adulthood, indicating a narrow therapeutic window for rescue strategies.<\/jats:p>","DOI":"10.3390\/genes15060762","type":"journal-article","created":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T12:11:00Z","timestamp":1718107860000},"page":"762","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The Clinical and Mutational Spectrum of Bardet\u2013Biedl Syndrome in Saudi Arabia"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7424-3409","authenticated-orcid":false,"given":"Doaa","family":"Milibari","sequence":"first","affiliation":[{"name":"Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh 12211, Saudi Arabia"},{"name":"Department of Ophthalmology, King Abdullah Medical City, Makkah 24211, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8594-8121","authenticated-orcid":false,"given":"Sawsan R.","family":"Nowilaty","sequence":"additional","affiliation":[{"name":"Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh 12211, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rola","family":"Ba-Abbad","sequence":"additional","affiliation":[{"name":"Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh 12211, Saudi Arabia"},{"name":"Ocular Genetics Services, King Khaled Eye Specialist Hospital, Riyadh 12211, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,6,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/humu.23903","article-title":"A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)","volume":"41","author":"Sharon","year":"2020","journal-title":"Hum. 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