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CORRELATION OF PHENOTYPE WITH GENOTYPE IN INHERITED RETINAL DEGENERATION

Daiger, Stephen P. , Sullivan, Lori A. and Rodriguez, Joseph A. (1995) CORRELATION OF PHENOTYPE WITH GENOTYPE IN INHERITED RETINAL DEGENERATION.

Short Abstract:

Retinitis pigmentosa and macular dystrophy are genetically heterogeneous diseases which cause retinal degeneration in humans and often result in severe visual impairment or blindness. Although many of the genes causing these diseases have not been identified, three photoreceptor-specific proteins have been implicated: rhodopsin, peripherin/RDS and the ~-subunit of rod phosphodiesterase. Mutations in the genes for these three proteins can cause either dominant retinitis pigmentosa, recessive retinitis pigmentosa, dominant congenital stationary night blindness or dominant macular degeneration. Why this multiplicity of clinical phenotypes? This target article summarizes the genetic and biochemical background to this question and proposes a number of possible explanations. Discussion focuses mainly on 73 distinct disease-causing mutations of rhodopsin. Rhodopsin and other photoreceptor proteins can serve as model systems for unravelling the connection between genotype and phenotype, not only for inherited retinal diseases but for other degenerative disorders as well.

Long Abstract:

Retinitis pigmentosa and macular dystrophy are genetically heterogeneous diseases which cause retinal degeneration in humans and often result in severe visual impairment or blindness. Although many of the genes causing these diseases have not been identified, three photoreceptor-specific proteins have been implicated: rhodopsin, peripherin/RDS and the ~-subunit of rod phosphodiesterase. Mutations in the genes for these three proteins can cause either dominant retinitis pigmentosa, recessive retinitis pigmentosa, dominant congenital stationary night blindness or dominant macular degeneration. Why this multiplicity of clinical phenotypes? This target article summarizes the genetic and biochemical background to this question and proposes a number of possible explanations. Discussion focuses mainly on 73 distinct disease-causing mutations of rhodopsin. Rhodopsin and other photoreceptor proteins can serve as model systems for unravelling the connection between genotype and phenotype, not only for inherited retinal diseases but for other degenerative disorders as well.

Keywords:	retinitis pigmentosa; macular dystrophy; rod and cone photoreceptor cells; rhodopsin; peripherin/RDS; phosphodiesterase ~-subunit; inherited retinal degeneration; human genetic diseases
Subjects:	BBS Special Issues: Controversies in Neuroscience: III - Signal Transduction in the Retina and Brain Biology: Behavioral Genetics Neuroscience: Neurochemistry Neuroscience: Neuroendocrinology Neuroscience: Neuropharmacology Neuroscience: Neurophysiology Psychology: Perceptual Cognitive Psychology Psychology: Physiological Psychology
ID code:	bbs00000448
Deposited by:	Stephen P Daiger on 01 May 2001