Novel codon 15 RHO gene mutation associated with retinitis pigmentosa

Abstract

 Manuel AP Vilela,1 Roberta K Menna Barreto,2 Pedro K Menna Barreto,1 Juliana MF Sallum,3 Vanessa S Mattevi1 1Department of Ophthalmology, Federal Health Sciences University of Porto Alegre, Porto Alegre, Brazil; 2Medical School, Federal University of Rio Grande do Sul, Rio Grande do Sul, Brazil; 3Department of Ophthalmology, Federal University of São Paulo, São Paulo, Brazil Objective: To describe, in a multimodal way, a new RHO gene mutation with lysine-for-asparagine substitution in autosomal dominant retinitis pigmentosa.Methods: Case report. Retrospective data analysis.Results: The mutation is located within codon 15 of exon 1 of the RHO gene. A single base-pair transversion lead to a specific lysine-for-asparagine substitution (Asn15Lys). Hypoacusis, myopia, dyschromatopsis and diffuse retinitis pigmentosa were detected. Detailed multimodal images for the posterior segment are presented.Conclusion: We present a new mutation with a specific substitution that may cause eye disease and which has not been described previously. There is no description of this variant in the genetic databases. Keywords: tapetoretinal degeneration, rod-cone dystrophy, pigmentary retinopathy, opsins, retinal pigments

Keywords

• Tapetoretinal Degeneration
• Rod-Cone Dystrophy
• Retinitis Pigmentosa
• RHO
• codon 15