Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.

Details

Serval ID
serval:BIB_9B1DCB9F7902
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.
Journal
Investigative ophthalmology & visual science
Author(s)
Grudzinska Pechhacker M.K., Jacobson S.G., Drack A.V., Scipio M.D., Strubbe I., Pfeifer W., Duncan J.L., Dollfus H., Goetz N., Muller J., Vincent A.L., Aleman T.S., Tumber A., Van Cauwenbergh C., De Baere E., Bedoukian E., Leroy B.P., Maynes J.T., Munier F.L., Tavares E., Saleh E., Vincent A., Heon E.
ISSN
1552-5783 (Electronic)
ISSN-L
0146-0404
Publication state
Published
Issued date
01/12/2021
Peer-reviewed
Oui
Volume
62
Number
15
Pages
26
Language
english
Notes
Publication types: Comparative Study ; Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
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.
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 autofluorescence (FAF), optical coherence tomography (OCT), Goldmann kinetic perimetry (VF), electroretinography (ERG), and the systemic phenotype were collected.
Sixty-seven individuals had variants in BBS1 (n = 38; 20 female patients and 18 male patients); or BBS10 (n = 29; 14 female patients and 15 male patients). Missense variants were the most common type of variants for patients with BBS1, whereas frameshift variants were most common for BBS10. When ERGs were recordable, rod-cone dystrophy (RCD) was observed in 82% (23/28) of patients with BBS1 and 73% (8/11) of patients with BBS10; cone-rod dystrophy (CORD) was seen in 18% of patients with BBS1 only, and cone dystrophy (COD) was only seen in 3 patients with BBS10 (27%). ERGs were nondetectable earlier in patients with BBS10 than in patients with BBS1. Similarly, VA and VF declined more rapidly in patients with BBS10 compared to patients with BBS1.
Retinal degeneration appears earlier and is more severe in BBS10 cases as compared to those with BBS1 variants. The course of change of visual function appears to relate to genetic subtypes of BBS.
Keywords
Adolescent, Adult, Bardet-Biedl Syndrome/genetics, Bardet-Biedl Syndrome/physiopathology, Chaperonins/genetics, Child, Child, Preschool, Electroretinography, Female, Humans, Male, Microtubule-Associated Proteins/genetics, Middle Aged, Mutation, Missense/genetics, Optical Imaging, Refraction, Ocular/physiology, Retina/physiopathology, Retinal Dystrophies/genetics, Retinal Dystrophies/physiopathology, Retrospective Studies, Tomography, Optical Coherence, Visual Acuity/physiology, Visual Field Tests, Visual Fields/physiology
Pubmed
Web of science
Open Access
Yes
Create date
04/01/2022 10:07
Last modification date
17/03/2022 7:36
Usage data