Yang et al. (2005) reported 13 affected individuals in a large Caucasian family with RP17. Reduction in night and peripheral vision manifested at around age 15, followed by rod photoreceptor atrophy, bone spicule pigmentation, and concomitant cone photoreceptor ... Yang et al. (2005) reported 13 affected individuals in a large Caucasian family with RP17. Reduction in night and peripheral vision manifested at around age 15, followed by rod photoreceptor atrophy, bone spicule pigmentation, and concomitant cone photoreceptor dysfunction manifested by photophobia, color vision changes, and decreased central vision. ERG demonstrated reduction of both rod and cone responses. Genealogic records indicated that this family was an offshoot of the South African family reported by Bardien et al. (1995).
In affected members of 2 previously reported South African families with RP17 (Bardien et al., 1995; Bardien et al., 1997), Rebello et al. (2004) identified an R14W mutation (114760.0001) in the CA4 gene. The mutation was found to ... In affected members of 2 previously reported South African families with RP17 (Bardien et al., 1995; Bardien et al., 1997), Rebello et al. (2004) identified an R14W mutation (114760.0001) in the CA4 gene. The mutation was found to cosegregate with the disease phenotype in the 2 families and was not found in 36 unaffected family members or 100 controls. In affected members of a European family with RP17, Yang et al. (2005) identified heterozygosity for an R219S mutation (114760.0002) in the CA4 gene. In a screen of 96 Chinese patients with autosomal dominant RP, Alvarez et al. (2007) identified 1 patient with an R60H mutation (114760.0003) in the CA4 gene. They stated that functional analysis of this mutation provided further evidence that impaired pH regulation may underlie photoreceptor degeneration in RP17.