Best Paper of the Session & Col.Rangachari Contestant

Dr. POORNACHANDRA B.

Prof.ROHIT SHETTY, DR. THIRUMALESH M. B., Dr.NARESH KUMAR YADAV

Abstract

PURPOSE: To study novel phenotypic patterns, genotypes and to explore newer potential therapies. METHODS: A total of 39 families were studied. Patients and family members underwent comprehensive evaluation and imaging. Functional analysis of mutations and therapeutic potentials tested in vitro. Sub-retinal delivery modality was developed in rodent models using novel dual Adeno-associated vectors(AAV) for gene therapy. RESULTS: A spectrum of fundus abnormalities were observed. Clinical variations within the family with same mutation, multiple novel mutations, newer genes and rare inheritance patterns were detected in 8 families. AAV dual vectors appeared to show promising efficacy. This technique harnesses intracellular recombination and splicing mechanisms. CONCLUSION: Stargardt’s disease can present with phenotypic variations with complex genotype. Evolving understanding of gene functions and in vivo methods of delivering therapeutics will improve outlook for treating this disease

Full Text