Novel codon 15 RHO gene mutation associated with retinitis pigmentosa
Received 4 July 2018
Accepted for publication 10 September 2018
Published 20 November 2018 Volume 2018:11 Pages 339—344
Checked for plagiarism Yes
Review by Single-blind
Peer reviewer comments 2
Editor who approved publication: Dr Scott Fraser
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
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