Retinitis Pigmentosa 29

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2019-09-22
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For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.

Clinical Features

Hameed et al. (2001) reported a 6-generation, consanguineous Pakistani family with autosomal recessive retinitis pigmentosa (arRP). All affected individuals had pigmentary retinopathy associated with symptoms of night blindness and the loss of peripheral visual fields by the age of 20 years, loss of central vision between the ages of 25 and 30 years, and complete blindness between the ages of 40 and 50 years.

Mapping

By linkage analysis in a Pakistani family with arRP, Hameed et al. (2001) mapped the disease locus to chromosome 4q32-q34, with a maximum lod score of 3.76 for marker D4S415, with no recombination. Further analyses gave a probable disease interval of 4.6 cM between markers D4S3035 and D4S2417. Mutation screening of 2 candidate genes, GPM6A (601275) and CLCN3 (600580), revealed no mutations.