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Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
- Source :
-
American journal of ophthalmology [Am J Ophthalmol] 2015 Aug; Vol. 160 (2), pp. 364-372.e1. Date of Electronic Publication: 2015 May 15. - Publication Year :
- 2015
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Abstract
- Purpose: To describe a series of patients with Bardet-Biedl syndrome (BBS) and predominantly retinal cone dysfunction, a previously only rarely reported association.<br />Design: Retrospective observational case series.<br />Methods: Seven patients with clinically proven Bardet-Biedl syndrome had undergone detailed ocular phenotyping, which included fundus examination, Goldmann visual fields, fundus autofluorescence imaging (FAF), optical coherence tomography (OCT), and electroretinography (ERG). Mutational screening in the BBS genes was performed either by direct Sanger sequencing or targeted next-generation sequencing.<br />Results: All 7 patients had proven BBS mutations; 1 had a cone dystrophy phenotype on ERG and 6 had a cone-rod pattern of dysfunction. Macular atrophy was present in all patients, usually with central hypofluorescence surrounded by a continuous hyperfluorescent ring on fundus autofluorescence imaging. OCT confirmed loss of outer retinal structure within the atrophic areas. No clear genotype-phenotype relationship was evident.<br />Conclusions: Patients with Bardet-Biedl syndrome usually develop early-onset retinitis pigmentosa. In contrast, the patients described herein, with molecularly confirmed Bardet-Biedl syndrome, developed early cone dysfunction, including the first reported case of a cone dystrophy phenotype associated with the disorder. The findings significantly expand the phenotype associated with Bardet-Biedl syndrome.<br /> (Copyright © 2015 Elsevier Inc. All rights reserved.)
- Subjects :
- Adult
Bardet-Biedl Syndrome genetics
DNA Mutational Analysis
Electroretinography
Female
Fluorescein Angiography
Fundus Oculi
Humans
Male
Middle Aged
Phenotype
Retinal Degeneration genetics
Retinal Degeneration physiopathology
Retrospective Studies
Tomography, Optical Coherence
Visual Acuity
Visual Fields
Bardet-Biedl Syndrome complications
DNA genetics
Eye Proteins genetics
Mutation
Retinal Cone Photoreceptor Cells physiology
Retinal Degeneration etiology
Subjects
Details
- Language :
- English
- ISSN :
- 1879-1891
- Volume :
- 160
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- American journal of ophthalmology
- Publication Type :
- Academic Journal
- Accession number :
- 25982971
- Full Text :
- https://doi.org/10.1016/j.ajo.2015.05.007