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Interphotoreceptor retinoid-binding protein (IRBP) has been considered essential for normal rod and cone function, as it mediates the transport of retinoids between the photoreceptors and the retinal pigment epithelium. This study was performed to determine whether mutations in the IRBP gene (RBP3) are associated with photoreceptor degeneration.

A Homozygous Missense Mutation in theIRBPGene (RBP3) Associated with Autosomal Recessive Retinitis Pigmentosa