{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Grudzinska Pechhacker MK"],"funding":["Fighting Blindness Canada"],"pagination":["26"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8711006"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["62(15)"],"pubmed_abstract":["<h4>Purpose</h4>The purpose of this study was to compare the natural history of visual function change in cohorts of patients affected with retinal degeneration due to biallelic variants in Bardet-Biedl syndrome genes: BBS1 and BBS10.<h4>Methods</h4>Patients were recruited from nine academic centers from six countries (Belgium, Canada, France, New Zealand, Switzerland, and the United States). Inclusion criteria were: (1) female or male patients with a clinical diagnosis of retinal dystrophy, (2) biallelic disease-causing variants in BBS1 or BBS10, and (3) measures of visual function for at least one visit. Retrospective data collected included genotypes, age, onset of symptoms, and best corrected visual acuity (VA). When possible, data on refractive error, fundus images and autofluorescenc"],"journal":["Investigative ophthalmology & visual science"],"pubmed_title":["Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10."],"pmcid":["PMC8711006"],"funding_grant_id":["RG1602","PR1301"],"pubmed_authors":["Aleman TS","Leroy BP","Maynes JT","Heon E","Van Cauwenbergh C","Bedoukian E","Munier FL","Saleh E","Vincent AL","Tavares E","Dollfus H","Grudzinska Pechhacker MK","Strubbe I","Duncan JL","De Baere E","Tumber A","Jacobson SG","Scipio MD","Pfeifer W","Drack AV","Goetz N","Vincent A","Muller J"],"additional_accession":[]},"is_claimable":false,"name":"Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.","description":"<h4>Purpose</h4>The purpose of this study was to compare the natural history of visual function change in cohorts of patients affected with retinal degeneration due to biallelic variants in Bardet-Biedl syndrome genes: BBS1 and BBS10.<h4>Methods</h4>Patients were recruited from nine academic centers from six countries (Belgium, Canada, France, New Zealand, Switzerland, and the United States). Inclusion criteria were: (1) female or male patients with a clinical diagnosis of retinal dystrophy, (2) biallelic disease-causing variants in BBS1 or BBS10, and (3) measures of visual function for at least one visit. Retrospective data collected included genotypes, age, onset of symptoms, and best corrected visual acuity (VA). When possible, data on refractive error, fundus images and autofluorescenc","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Dec","modification":"2025-05-29T19:17:01.345Z","creation":"2022-02-11T16:19:34.418Z"},"accession":"S-EPMC8711006","cross_references":{"pubmed":["34940782"],"doi":["10.1167/iovs.62.15.26"]}}