Chapter 10 Autosomal dominant retinitis pigmentosa: Molecular, genetic and clinical aspects

Quantitative analysis of subretinal injections in the rat

“…Retinitis pigmentosa affects 1 in 3000 people in all ethnic groups [6,17], and age-related macular degeneration is the leading cause of severe vision loss in the elderly, affecting 6.4-11.4% of people beyond the age of 65 years [18,20,26]. Many retinal degenerations correspond to an identified genetic defect of the phototransduction cascade proteins in animals [7,10] as well as in humans [12].…”

Calcium-Binding Proteins and Nitric Oxide in Retinal Function and Disease

“…The photoreceptor cells in the retina are primarily affected and mutations in photoreceptor-specific proteins can cause different forms of retinal degeneration. While many RP-related genes have been mapped to chromosomal loci, and single mutations in genes of RP patients were identified, much less is known about the cellular or biochemical consequences that ultimately lead to the degeneration of photoreceptor cells [Humphries et al, 1992;Berson, 1993;Humphries et al, 1993;Daiger et al, 1995;Berson, 1996;Gal et al, 1997]. Mutations that correspond to RP-related diseases have been identified in eight genes so far (table 1).…”

Rhodopsin mutations in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four.

“…This mutation was detected in an affected individual of family K-6056 and is shown in Figure 4B. The shift in lane 2 was due to a heterozygous G to A (AG to AA) substitution at the 3' acceptor site of intron 4 and was observed in three affected family members of family M-6191. The sequence is shown in Figure 4C.…”