Retinitis Pigmentosa 48

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2019-09-22
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A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-48 is caused by heterozygous mutation in the gene encoding guanylate cyclase activator 1B (GUCA1B; 602275) on chromosome 6p21.

For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.

Clinical Features

In 7 members of 3 families in which mutation in the GUCA1B gene led to retinitis pigmentosa (RP48), Sato et al. (2005) found that the mutation was associated with RP with or without macular involvement in 5 members, macular degeneration in 1 member, and asymptomatic normal phenotype in 1 member. Sato et al. (2005) concluded that this mutation causes autosomal dominant retinal dystrophy with variable phenotypic expression and incomplete penetrance.

Molecular Genetics

Sato et al. (2005) screened 96 unrelated Japanese patients with retinitis pigmentosa for mutations in the GUCA1B gene and identified heterozygosity for a G157R mutation (602275.0001) in 3.

Using a stepwise molecular screening method in a cohort of 369 Japanese probands with inherited retinal dystrophy, Arai et al. (2015) identified the G157R mutation in 4 patients with retinitis pigmentosa.