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• W184087094 abstract "Purpose. To assess the occurrence of PRPH2 mutations in patients presenting macular dystrophies and to describe their phenotype-genotype correlation. Methods. A total of 32 sporadic cases and 13 individuals from 5 families were studied. The patients presented early onset drusen, suspected pattern dystrophy (including adult-onset foveomacular vitelliform dystrophy [AOFVD]), or any presumed macular dystrophy producing neovascularization or atrophic changes documented before patients reached 50 years of age. In case of atrophy, this could be confined to the macula, which was considered to be central areolar choroidal dystrophy (CACD), or extend to the midperiphery of the retina, which we called diffuse macular dystrophy (DMD). Clinical workup and analysis of PRPH2, EFEMP1, and TIMP3 genes were done. Results. Four mutations of the PRPH2 gene were found in 3 sporadic cases and 3 families (n=11). A p.R46X mutation, previously described in CACD, was found in 3 members of a family with AOFVD and in a sporadic case with DMD. A p.L45F mutation, described before in retinitis pigmentosa, was found in a sporadic case of AOFVD. A p.R195L mutation previously described in CACD was found in 2 members of a family with CACD. The latter was found in a family and a sporadic case (from the same village as the family) and all of them presented DMD. A new p.V209l mutation was found in a patient with AOFVD. Conclusions. New phenotypes were found for known mutations. No phenotype variation was observed in the members of the 3 families. A new mutation in PRPH2 gene was found." @default.
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• W184087094 date "2010-07-01" @default.
• W184087094 modified "2023-09-27" @default.
• W184087094 title "PRPH2 (Peripherin/RDS) Mutations Associated with Different Macular Dystrophies in a Spanish Population: A New Mutation" @default.
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• W184087094 doi "https://doi.org/10.1177/112067211002000413" @default.
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