Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy.

Abstract excerpt

Objectives: Hereditary retinal dystrophies are a rare group of diseases which are heterogeneous in genotype and phenotype and result in total blindness. One of the genetic defects that cause hereditary retinal dystrophy is mutation of the RPE65 gene. Genetic therapy studies in hereditary retinal dystrophies have increased in number recently, and important developments have been reported in these studies....

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