Journal article
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10
Abstract
Purpose: 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.
Methods: 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 …
Authors
Pechhacker MKG; Jacobson SG; Drack AV; Di Scipio M; Strubbe I; Pfeifer W; Duncan JL; Dollfus H; Goetz N; Muller J
Journal
Investigative Ophthalmology & Visual Science, Vol. 62, No. 15,
Publisher
Association for Research in Vision and Ophthalmology (ARVO)
Publication Date
December 23, 2021
DOI
10.1167/iovs.62.15.26
ISSN
0146-0404
Associated Experts
Fields of Research (FoR)
Medical Subject Headings (MeSH)
AdolescentAdultBardet-Biedl SyndromeChaperoninsChildChild, PreschoolElectroretinographyFemaleHumansMaleMicrotubule-Associated ProteinsMiddle AgedMutation, MissenseOptical ImagingRefraction, OcularRetinaRetinal DystrophiesRetrospective StudiesTomography, Optical CoherenceVisual AcuityVisual Field TestsVisual Fields