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R. M. Coco, J. J. Telleria, M. R. Sanabria, E. Rodriguez-Rua, M. T. García; Analysis of Peripherin-rds in Isolated Cases and Spanish Families Presenting Different Macular Dystrophies. Invest. Ophthalmol. Vis. Sci. 2008;49(13):3102.
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Because several macular dystrophies are caused by mutations in the peripherin/RDS gene, we examined autosomal dominant and sporadic cases presenting central atrophic macular dystrophy or Pattern dystrophy or Adult-onset foveomacular dystrophy for mutations in this gene.
DNA sequence analysis of the peripherin/RDS gene was performed in thirty two sporadic cases and in thirteen affected individuals from five families presenting central atrophic dystrophy and patients or Pattern Dystrophy or Adult-onset foveomacular dystrophies.
An Arg46ter mutation previously described in Central Areolar Choroidal Dystrophy and Diffuse Retinal Degeneration was found in a sporadic case of Macular Dystrophy extending to the mid periphery of the retina, and also in three members of the same family presenting Pattern Dystrophy. A Leu45Phe mutation which was previously described in Central Areolar Choroidal Dystrophy and Diffuse Retinal Degeneration was found in a sporadic case of Pattern Dystrophy. An Arg195Leu mutation that had been previously described in Central Areolar Choroidal Dystrophy was found in two brothers presenting as well Central Areolar Choroidal Dystrophy. The later mutation was also found in a mother and a daughter and a sporadic case (this one having been born in the same small village than the other two members of the cited family) presenting a Macular dystrophy extending to the mid periphery of the retina. Finally a Val209Ile mutation, not described previously, was found within the main hot spot mutation region of the protein. None of 100 blood control samples showed this change, allowing us to rule out polymorphism as a possibility. The patient presented Adult-onset Foveomacular Dystrophy.
Four different mutations in the peripherin/RDS gene are responsible of Central Areolar Choroidal Dystrophy, Diffuse Retinal Degeneration and Pattern Dystrophy. A Val209Ile mutation causing Pattern Dystrophy has been described as a new mutation. New phenotypes have been found for previously known mutations.
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