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 anonymous peer review
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
This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.Download Article [PDF] View Full Text [HTML][Machine readable]