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Am J Ophthalmol. 2015 Aug;160(2):364-372.e1. doi: 10.1016/j.ajo.2015.05.007. Epub 2015 May 15.

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

Author information

1
Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France.
2
Inherited Eye Diseases, UCL Institute of Ophthalmology, London, and Moorfields Eye Hospital NHS Trust, London, United Kingdom.
3
Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
4
Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Faculté de Médecine, Université de Strasbourg, Strasbourg, France.
5
Service d'exploration de la Vision et Neuro-ophtalmologie, CHRU de Lille, Lille, France.
6
Visual Neuroscience, UCL Institute of Ophthalmology, London, and Moorfields Eye Hospital NHS Trust, London, United Kingdom.
7
Genetic Sensory Diseases, CHU Montpellier, Montpellier, France.
8
Inherited Eye Diseases, UCL Institute of Ophthalmology, London, and Moorfields Eye Hospital NHS Trust, London, United Kingdom; Department of Ophthalmology, University of California, San Francisco Medical School, san Francisco, California.
9
Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Faculté de Médecine, Université de Strasbourg, Strasbourg, France. Electronic address: dollfus@unistra.fr.

Abstract

PURPOSE:

To describe a series of patients with Bardet-Biedl syndrome (BBS) and predominantly retinal cone dysfunction, a previously only rarely reported association.

DESIGN:

Retrospective observational case series.

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.

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.

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.

PMID:
25982971
DOI:
10.1016/j.ajo.2015.05.007
[Indexed for MEDLINE]

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