Journal
ARCHIVES OF OPHTHALMOLOGY
Volume 130, Issue 11, Pages 1425-1432Publisher
AMER MEDICAL ASSOC
DOI: 10.1001/archophthalmol.2012.2434
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Funding
- Radboud University Nijmegen Medical Centre
- Foundation Fighting Blindness US [BR-GE-0510-0489-RAD]
- Algemene Nederlandse Vereniging ter Voorkoming van Blindheid
- Gelderse Blinden Stichting
- Landelijke Stichting voor Blinden en Slechtzienden
- Retina Nederland
- Stichting Oogfonds Nederland
- Stichting Wetenschappelijk Onderzoek het Oogziekenhuis
- Rotterdamse Vereniging Blindenbelangen
- Stichting AF Deutman Researchfonds Oogheelkunde
- Foundation Fighting Blindness Canada
- Canadian Institute of Health Research
- Fond de la recherche en sante du Quebec, Reseau Vision
- National Intitutes of Health
- Organizacion Nacional de Ciegos
- FIS [PS09/00459]
- CIBERER (ISCIII)
- Italian Telethon Foundation
- Italian Ministry of Health
- Research Foundation-Flanders/FWO [KAN 1524611N]
- Research Foundation-Flanders [3E000203, 31509107, 31518209]
- OZP [3G004306]
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Objective: To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP). Methods: Homozygosity mapping of a patient with isolated RP was followed by BBS1 sequence analysis. We performed restriction fragment length polymorphism analysis of the p.M390R allele in 2007 patients with isolated RP or autosomal recessive RP and in 1824 ethnically matched controls. Patients with 2 BBS1 variants underwent extensive clinical and ophthalmologic assessment. Results: In an RP proband who did not fulfill the clinical criteria for BBS, we identified a large homozygous region encompassing the BBS1 gene, which carried the p.M390R variant. In addition, this variant was detected homozygously in 10 RP patients and 1 control, compound heterozygously in 3 patients, and heterozygously in 5 patients and 6 controls. The 14 patients with 2 BBS1 variants showed the entire clinical spectrum, from nonsyndromic RP to full-blown BBS. In 8 of 14 patients, visual acuity was significantly reduced. In patients with electroretinographic responses, a rod-cone pattern of photoreceptor degeneration was observed. Conclusions: Variants in BBS1 are significantly associated with nonsyndromic autosomal recessive RP and relatively mild forms of BBS. As exemplified in this study by the identification of a homozygous p.M390R variant in a control individual and in unaffected parents of BBS patients in other studies, cis- or trans-acting modifiers may influence the disease phenotype.
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