FP269
1601
Dr.Poornachandra B
Membership No | Author Name | Mobile | |
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1601 | Dr.Poornachandra B | [email protected] | 9880016222 |
Diabetic Retinopathy & Medical retina
Predictive, Preventive and Therapeutic strategies for Retinal dystrophies
AIM: To explore management strategies for Retinal Dystrophies METHODS: All patients underwent comprehensive evaluation, imaging, electrophysiological tests and genetic test 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.
Membership No | Author Name | Mobile | |
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865 | Prof.Rohit Shetty | [email protected] | 9611102568 |
1197 | Dr.Naresh Kumar Yadav | [email protected] | 9980872120 |
1189 | Dr.Anand Vinekar | [email protected] | 9980816248 |