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Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.

Abstract：

PURPOSE:To define the retinal phenotype in patients with the Bardet-Biedl syndrome and mutations in the BBS1 gene. METHODS:Ten patients (age range, 16-48 years), representing eight pedigrees, with BBS1 gene mutations were studied clinically and with kinetic perimetry, chromatic static perimetry, electroretinography (ERG), and optical coherence tomography. RESULTS:Of the 10 patients, 8 were M390R homozygotes and 2 were compound heterozygotes with one allele also M390R. A spectrum of retinal disease expression was present. The mildest disease was a subtle maculopathy with relatively limited peripheral retinal dysfunction. Moderate disease showed retina-wide rod > cone dysfunction, and often there was a negative ERG waveform. More severe disease expression had different patterns: either loss of central function but retained abnormal peripheral function or a retained small central island of impaired function only. Moderate and severe disease showed loss of retinal and photoreceptor layer thickness across wide expanses of retina. Severity differed in family members and was independent of age. In addition, severity was not explained by genotype at a recently reported BBS epistatic gene, MGC1203. CONCLUSIONS:The cardinal feature of retinal degeneration in BBS1 can show a wide spectrum of disease expression.

journal_name

Invest Ophthalmol Vis Sci

journal_title

Investigative ophthalmology & visual science

authors

Azari AA,Aleman TS,Cideciyan AV,Schwartz SB,Windsor EA,Sumaroka A,Cheung AY,Steinberg JD,Roman AJ,Stone EM,Sheffield VC,Jacobson SG

doi

10.1167/iovs.06-0517

subject

Has Abstract

pub_date

2006-11-01 00:00:00

pages

5004-10

issue

11

eissn

0146-0404

issn

1552-5783

pii

47/11/5004

journal_volume

47

pub_type

杂志文章

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