Article
RPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India.
Ophthalmic genetics - 1 Jun 2024
Parameswarappa Deepika C, Bagga Deepak Kumar, Upadhyaya Abhishek, Balasubramanian Jeyapoorani, Pochaboina Venkatesh, Muthineni Vani, Jalali Subhadra, Kannabiran Chitra
Abstract excerpt
INTRODUCTION: Mutations in the retinal pigment epithelial 65 kilodalton protein (RPE65) gene are associated with various inherited retinal diseases (IRDs), including Leber congenital amaurosis (LCA), early-onset severe retinal dystrophy (EOSRD), and retinitis pigmentosa (RP). We screened for mutations in RPE65 in a series of Indian patients with these IRDs to determine the frequency/types of mutations and to...
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