retinitis pigmentosa - families autosomal dominant...

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retinitis pigmentosa (RP): • degeneration of retina (accompanied by deposits of pigment in retina) progressive visual impairment blindness • population prevalence of 1/3,000 • one of most common causes of blindness among middle aged in developed countries • autosomal recessive inheritance in 84% of affected
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Unformatted text preview: families autosomal dominant inheritance in 10% of affected families X-linked recessive inheritance in 6% of affected families At least 66 different genetic loci implicated but RP appears to be result of a single gene mutation in any given family, at least in most cases NON-ALLELIC HETEROGENEITY...
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