Dr. POORNACHANDRA B.

Dr. ROHIT SHETTY, Dr. THIRUMALESH M. B., Dr.Dr. SHETTY BHUJANG K.

Abstract

AIM:To explore management strategies for Retinal Dystrophies METHODS: All patients underwent comprehensive evaluation, imaging, electrophysiological tests and genetic testing using targeted sequencing to identify causative mutations. Functional analysis of mutations and therapeutic potentials tested in vitro RESULTS: We report 100 cases representing a wide spectrum of retinal dystrophies. Most revealed cognate, defined mutations, 15 were unreported novel mutations with prognostic significance. Some had mutations for which clinical trials are underway. Effect of mutations on protein function was assessed in vitro. Sub-retinal delivery modality was developed in rodent models using Adeno-associated vectors for gene therapy CONCLUSION: Genotype to phenotype correlation can help predict disease course in retinal dystrophy to improve quality of life. Our evolving understanding of gene functions and in vivo methods of delivering therapeutics will improve the outlook for retinal dystrophies

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