Abstract

Photoreceptor dysfunction is the major cause of vision loss in patients with retinitis pigmentosa (RP) -- a heterogeneous group of progressive hereditary retinal degenerative disorders.1 Based on the various clinical attributes of these disorders, the rod photoreceptors have been identified as the primary focus of RP. This concept is strongly supported by the findings of the molecular genetic basis of one form of autosomal dominant RP (ADRP), which is a mutation in the rod photoreceptor-specific rhodopsin gene.2 Recently, mutations in the rds/peripherin gene have been identified in some ADRP patients whose rhodopsin genes are normal,3,4 thereby suggesting that a mutation in the rds/peripherin gene is the primary defect that causes this form of ADRP. (See chapters on the rds/peripherin gene in this volume.)

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