A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy

Abstract

The RDS-peripherin gene encodes a photoreceptor-specific protein that is localized in the outer segment disc membranes of both rods and cones. We screened a Spanish family with central areolar choroidal dystrophy for mutations in candidate genes. A base substitution was identified in the RDS-peripherin gene of one patient and DNA sequencing revealed a C-to-T transition in codon 172, arginine being substituted by tryptophan. The mutation was also detected in two asymptomatic family members who showed irregular pigmentation in the retinal pigment epithelium (RPE). The phenotype is similar to other macular dystrophies caused by mutation in the RDS-peripherin gene.

A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration

“…Substitution of this amino acid has been described in connection with several entities, including macular degeneration, macular degeneration with periphery involvement, chorioretinal degeneration, and central areolar choroidal dystrophy. [1][2][3][4] Even if some of these terms describe retinal diseases with identical genetic defects, defects which definitely have a pathogenetic potential, other genetic or environmental factors could also act as modulating factors, thus modifying the phenotype. This genotype-phenotype relation has still not been explored in most families with retinitis pigmentosa.…”

“…This genotype has been described previously in families from Spain, England, Japan, and Switzerland, and the phenotype has been presented as macular degeneration with or without peripheral involvement. [1][2][3][4] The objective of this study was to clinically characterize the family and, using full-field electroretinography, examine the peripheral rod and cone involvement.…”

Central Areolar Macular Dystrophy: A Case Report and Review of Literature

“…To date, seven different mutations in the PRPH2 gene have been identified to cause the CACD phenotype. [6][7][8][9][10][11][12] It may be challenging to diagnose CACD in the early stages of the disorder because of the relative nonspecific RPE abnormalities. Also, the late-onset variant may easily be confused with age-related macular degeneration (AMD) and thus be misdiagnosed.…”

Two novel mutations (Y141H; C214Y) and previously published mutation (R142W) in the RDS-peripherin gene in autosomal dominant macular dystrophies in Spanish families

“…Therefore the screening of this gene must be routinely done in ADMD patients (Reig et al;Trujillo et al;1997).…”