Clinical progress in inherited retinal degenerations: gene therapy clinical trials and advances in genetic sequencing

Conclusion: Comprehensive next-generation genetic sequencing of all retinal dystrophy genes is changing the paradigm for how retinal specialists perform genetic testing for inherited retinal degenerations. Not only are high diagnostic yields obtained, but mutations in genes with novel clinical phenotypes are also identified. In the era of retinal gene therapy clinical trials, identifying specific genetic defects will increasingly be of use to identify patients who may enroll in clinical studies and benefit from novel therapies.
Source: RETINA - Category: Opthalmology Tags: Review Source Type: research