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Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
Am J Ophthalmol. 2015 Aug; 160(2):364-372.e1.AJ

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.

Authors+Show Affiliations

Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France.Inherited Eye Diseases, UCL Institute of Ophthalmology, London, and Moorfields Eye Hospital NHS Trust, London, United Kingdom.Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France.Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France.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 Diagnostic Génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Faculté de Médecine, Université de Strasbourg, Strasbourg, France.Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France.Service d'exploration de la Vision et Neuro-ophtalmologie, CHRU de Lille, Lille, France.Service d'exploration de la Vision et Neuro-ophtalmologie, CHRU de Lille, Lille, France.Visual Neuroscience, UCL Institute of Ophthalmology, London, and Moorfields Eye Hospital NHS Trust, London, United Kingdom.Genetic Sensory Diseases, CHU Montpellier, Montpellier, France.Inherited Eye Diseases, UCL Institute of Ophthalmology, London, and Moorfields Eye Hospital NHS Trust, London, United Kingdom.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.Service d'exploration de la Vision et Neuro-ophtalmologie, CHRU de Lille, Lille, France.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.

Pub Type(s)

Journal Article
Multicenter Study
Observational Study
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

25982971

Citation

Scheidecker, Sophie, et al. "Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome." American Journal of Ophthalmology, vol. 160, no. 2, 2015, pp. 364-372.e1.
Scheidecker S, Hull S, Perdomo Y, et al. Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. Am J Ophthalmol. 2015;160(2):364-372.e1.
Scheidecker, S., Hull, S., Perdomo, Y., Studer, F., Pelletier, V., Muller, J., Stoetzel, C., Schaefer, E., Defoort-Dhellemmes, S., Drumare, I., Holder, G. E., Hamel, C. P., Webster, A. R., Moore, A. T., Puech, B., & Dollfus, H. J. (2015). Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. American Journal of Ophthalmology, 160(2), 364-e1. https://doi.org/10.1016/j.ajo.2015.05.007
Scheidecker S, et al. Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. Am J Ophthalmol. 2015;160(2):364-372.e1. PubMed PMID: 25982971.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. AU - Scheidecker,Sophie, AU - Hull,Sarah, AU - Perdomo,Yaumara, AU - Studer,Fouzia, AU - Pelletier,Valérie, AU - Muller,Jean, AU - Stoetzel,Corinne, AU - Schaefer,Elise, AU - Defoort-Dhellemmes,Sabine, AU - Drumare,Isabelle, AU - Holder,Graham E, AU - Hamel,Christian P, AU - Webster,Andrew R, AU - Moore,Anthony T, AU - Puech,Bernard, AU - Dollfus,Hélène J, Y1 - 2015/05/15/ PY - 2014/11/10/received PY - 2015/05/07/revised PY - 2015/05/08/accepted PY - 2015/5/19/entrez PY - 2015/5/20/pubmed PY - 2015/9/29/medline SP - 364 EP - 372.e1 JF - American journal of ophthalmology JO - Am J Ophthalmol VL - 160 IS - 2 N2 - 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. SN - 1879-1891 UR - https://www.unboundmedicine.com/medline/citation/25982971/Predominantly_Cone_System_Dysfunction_as_Rare_Form_of_Retinal_Degeneration_in_Patients_With_Molecularly_Confirmed_Bardet_Biedl_Syndrome_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0002-9394(15)00274-3 DB - PRIME DP - Unbound Medicine ER -