Retinal Dystrophies and the Road to Treatment: Clinical Requirements and Considerations.

ABSTRACT: : Retinal dystrophies (RDs) comprise relatively rare but devastating causes of progressive vision loss. They represent a spectrum of diseases with marked genetic and clinical heterogeneity. Mutations in the same gene may lead to different diagnoses, for example, retinitis pigmentosa or cone dystrophy. Conversely, mutations in different genes may lead to the same phenotype. The age at symptom onset, and the rate and characteristics of peripheral and central vision decline, may vary widely per disease group and even within families. For most RD cases, no effective treatment is currently available. However, preclinical studies and phase I/II/III gene therapy trials are ongoing for several RD subtypes, and recently the first retinal gene therapy has been approved by the US Food and Drug Admini

SUBMITTER: Talib M 

PROVIDER: S-EPMC7299224 | biostudies-literature | 2020 May-Jun

REPOSITORIES: biostudies-literature