Clinical and genetic aspects of two Spanish families with autosomal dominant retinitis pigmentosa (ADRP)

Abstract

A study was made of two families with autosomal dominant retinitis pigmentosa (ADRP) from Valencia (Spain). One family (ADRP15) was found to have mutation in codon 114 of the rhodopsin gene that led to a substitution of a glycine for an aspartic acid. The second family (ADRP7) substituted an aspartic acid for valine in codon 173 of the peripherin-RDS gene. Rhodopsin is involved in 25% of ADRP cases and many mutations of this gene have been described as causing different forms of the disease, with variable severity and age at onset. ADRP has been classified as RP with a milder symptom evolution, a typical RP fundus pattern, and macular involvement occurring after the second decade of life. Peripherin-RDS gene mutations lead to RP or other retinopathies. Furthermore, two mutations in codon 172 have been described as causing macular dystrophy. In ADRP7, a mutation in neighboring codon 173 produced RP with an atypical fundus pattern and macular involvement within the first decade of life. These observations confirm the established clinical and genetic heterogeneity involved in this form of RP.