Nonsyndromic retinitis pigmentosa is highly prevalent in the ... | 合法醫療器材資訊網

由DSharon著作·2015·被引用41次—Atotalof453individualsaffectedwithnonsyndromicRPwerediagnosedatourcenter,accordingtofunduscopicfindingsandERGtesting.Based ...

Purpose: Nonsyndromic retinitis pigmentosa (RP) is the most common inherited retinal degeneration, and prevalence of the disease has been reported in populations of American and European origin with a relatively low consanguinity rate. Our aim was to determine the prevalence of nonsyndromic RP in the Jerusalem region, which has a population of about 1 million individuals with a high rate of consanguinity.

Methods: The patients clinical data included eye exam findings (visual acuity, anterior segment, and funduscopy) as well as electroretinographic (ERG) testing results under scotopic and photopic conditions. Mutation analysis on a subgroup of patients was performed mainly with candidate gene analysis and homozygosity mapping.

Results: We evaluated the medical records of patients with degenerative retinal diseases residing in the Jerusalem region who were examined over the past 2...