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Maria Moussalli; Pigmentary autosomal dominant familiar retinopathy of penetrance and variable expressivity: Report of a deletion not reported in the human rhodopsin gene in a series of family cases. Invest. Ophthalmol. Vis. Sci. 2018;59(9):44.
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Analyze a gene variant in a family with history of Retinal disease, Retinitis Pigmentosa RP with t ypical pattern.The case 2 brothers ,30 and 31 years old with RP and the father without disease but wit the same mutation
As we known, Retinitis Pigmentosa is the most frecuent and progressive inherited retina degeneration.Is Very heterogeneous and in 50% of the cases has a family history.The progressive alteration of the photoreceptor causes night blindness and the classical clinic consist in progressive peripherical contraction of the Visual field, depression of the Electroretinogram and in the ocular fundus pigment epithelium degeneration, as peripherical bone spicules, palor disc and vessel thining. The first gene Maped in RP was RHO , are described several mutation , the most frecuent is missense mutation, and presentation may be syndromic and non syndromic.In both patient ,Ocular fundus and OCT,has an atrophy of photoreceptors, normal optic disk peripherical bones spicules, macular athrophy , RE incipient epiretinal membrane in the LE ILM absent inner limiting membrane because a peeling in another place of MER and a Little cystoid degeneration. Multifocal ERG was depressed in both eyes.The pedigree of the patient and the brother , nobody have a retinal degeneration diseases and low vision. Father was not affected.DNA was obtained and we used NGS for the genetic study and this is the panel that we studied including rho gene.
NGS detected in the father and two brothers a heterozygous deletion in the Exon 5 of the RHO gene in this sequence, 343.Results in an aminoacidic change in the primary sequence of the protein impairing its funcionality . With Mutation taster software confirm it is not a polimophism. The brother presented the same deletion. This deletion position, causes an alteration in the reading of the frameshift so it generates a premature codon stop and non functional truncated protein
RP causes blindness or severe low-vision between 20 - 60 years old,molecular defect is identified in 50% of affected patients The Genetic testing is a useful tool in the diagnosis, prognosis, treatment and allows genetic counseling in RP. A similar mutation was reported in Germany in 1992.This variant was neither founded in EXAC or 1000G
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
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