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Article

CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice

23 Feb 2014

Abstract excerpt

Mutations in the CRB1 gene lead to retinal dystrophies ranging from Leber congenital amaurosis (LCA) to early-onset retinitis pigmentosa (RP), due to developmental defects or loss of adhesion between photoreceptors and Müller glia cells, respectively. Whereas over 150 mutations have been found, no clear genotype-phenotype correlation has been established. Mouse Crb1 knockout retinas show a mild phenotype limited...

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PMID: 24565864
DOI: 10.1093/hmg/ddu089

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