Retinitis pigmentosa: genes, proteins and prospects

Abstract

The name retinitis pigmentosa (RP) describes a heterogeneous group of inherited progressive retinal dystrophies, primarily affecting the peripheral retina. Patients experience night blindness and visual field loss, often leading to complete blindness. RP can be inherited in autosomal dominant, autosomal recessive, X-linked, mitochondrial and genetically more complex modes. To date, 39 loci have been implicated in non-syndromic RP, for which 30 of the genes are known. Many of these can be grouped by function, giving insights into the disease process. These include components of the phototransduction cascade, proteins involved in retinol metabolism and cell-cell interaction, photoreceptor structural proteins and transcription factors, intracellular transport proteins and splicing factors. Current knowledge of each grouping is reviewed briefly herein and consistent patterns of inheritance, which may have functional significance, are noted. The complexity of these diseases has in the past made it difficult to counsel patients or to envisage widely applicable therapies. As a more complete picture is emerging however, possibilities exist for streamlining screening services and a number of avenues for possible therapy are being investigated.