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Aline Astorga Carballo, Vanessa Ruiz Villegas, Rodrigo Matsui; Clinical and molecular analysis in a family with X-linked retinitis pigmentosa due to a novel mutation in RPGR .. Invest. Ophthalmol. Vis. Sci. 2017;58(8):2769. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
To describe the clinical and molecular characteristics of a mexican family with a novel RPGR-ORF 15 mutation.
Setting. Institute of Ophthalmology “Conde de Valenciana”, at Mexico City.Methods.The study included a 10 affected patients and 4 carriers evaluated at the Institute of Ophthalmology “Conde de Valenciana”. Diagnosis of X-linked retinitis pigmentosa (XLRP) was made based in pedigree analysis and results of a number of tests including best corrected visual acuity (BCVA), fundoscopic examination, electroretinography (ERG), kinetic perimetry, fundus autofluorescence (FAF), and optical coherence tomography (OCT). Genetic analysis of the entire RPGR gene was done in genomic DNA by means of PCR followed by direct nucleotide sequencing using Sanger sequencing.
Fundoscopy examination of the affected patients revealed pigmentary abnormalities at the midperiphery region. OCT showed decreased outer nuclear layer (ONL) thickness at 1.51 millimeters from the fovea. En face imaging with infrared reflectance showed increased reflectivity in the perimacular region. A hyperautofluorescent ring in the foveal region was documented with short-wave fundus autofluorescence. Goldmann kinetic perimetry showed a 10 degree central island of vision. Full-field electroretinogram showed a non-detectable rod or cone response. Molecular analysis disclosed a novel c.2492delA hemizygous mutation at RPGR ORF 15, predicting a frameshift and the introduction of a stop codon at p.Glu831fs*1091. Genetic analysis in DNA from the carriers also confirmed the mutation.
In an era in which some inherited degenerative retinal conditions can be treated by gene therapy, molecular diagnosis has a great importance for definitive diagnosis of retinal diseases. This study provides a detailed description of the clinical features of a XLRP family1 originated by a novel mutation in RPGR ORF 15.No Financial disclosure
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
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