CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING.

ABSTRACT:

Purpose

Inherited retinal dystrophies are a significant cause of vision loss and are characterized by the loss of photoreceptors and the retinal pigment epithelium (RPE). Mutations in approximately 250 genes cause inherited retinal degenerations with a high degree of genetic heterogeneity. New techniques in next-generation sequencing are allowing the comprehensive analysis of all retinal disease genes thus changing the approach to the molecular diagnosis of inherited retinal dystrophies. This review serves to analyze clinical progress in genetic diagnostic testing and implications for retinal gene therapy.

Methods

A literature search of PubMed and OMIM was conducted to relevant articles in inherited retinal dystrophies.

Results

Next-generation genetic sequencing allow

SUBMITTER: Hafler BP 

PROVIDER: S-EPMC5465814 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature