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 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

SUBMITTER: Grudzinska Pechhacker MK 

PROVIDER: S-EPMC8711006 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature