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The authors have identified a recessive mutation causing progressive retinal degeneration, white fundus flecks, and eventual retinal pigment epithelium (RPE) atrophy. The goal of these studies was to characterize the retinal phenotype, to identify the causative locus, and to examine possible functions of the affected gene.

174delG Mutation in Mouse MFRP Causes Photoreceptor Degeneration and RPE Atrophy