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D. Sharon, D. Bandah-Rozenfeld, K. W. Littink, T. Ben-Yosef, I. Chowers, R. W. J. Collin, A. I. Den Hollander, S. Merin, E. Banin, F. P. M. Cremers; Novel Null Mutations in the EYS Gene Are a Frequent Cause of Autosomal Recessive Retinitis Pigmentosa in the Israeli Population. Invest. Ophthalmol. Vis. Sci. 2010;51(13):4079.
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© ARVO (1962-2015); The Authors (2016-present)
To characterize the role of EYS, a recently identified retinal disease gene, in families with inherited retinal degenerations in the Israeli and Palestinian populations.
Clinical and molecular analyses included family history, ocular examination, full-field electroretinography (ERG), perimetry, autozygosity mapping, mutation detection, and estimation of mutation age.
We performed autozygosity mapping in 171 consanguineous Israeli and Palestinian families with inherited retinal degenerations. Large homozygous regions including the EYS gene were identified in 17 of the families. EYS mutation analysis in the 17 index cases, followed by genotyping of specific mutations in additional 121 cases with inherited retinal degenerations, revealed five novel null mutations, two of which are founder mutations, in 10 Israeli and Palestinian families with autosomal recessive retinitis pigmentosa (arRP). The most common mutation we identified was a founder mutation in the Moroccan Jewish sub-population. Using the ESTIAGE program, we estimate that the most recent common ancestor lived 26 generations ago. The retinal phenotype in most patients was a typical yet relatively severe RP, with an early age of onset and non-recordable ERGs upon presentation.
Our results demonstrate that EYS is currently the most commonly mutated arRP gene in the Israeli population, mainly due to founder mutations. EYS mutations were associated with an RP phenotype in all patients, and we predict that the gene plays only a minor role in causing other retinal phenotypes.
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