Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments.

ABSTRACT: Choroideremia is an X-linked inherited chorioretinal dystrophy leading to blindness by late adulthood. Choroideremia is caused by mutations in the CHM gene which encodes Rab escort protein 1 (REP1), an ubiquitously expressed protein involved in intracellular trafficking and prenylation activity. The exact site of pathogenesis remains unclear but results in degeneration of the photoreceptors, retinal pigment epithelium and choroid. Animal and stem cell models have been used to study the molecular defects in choroideremia and test effectiveness of treatment interventions. Natural history studies of choroideremia have provided additional insight into the clinical phenotype of the condition and prepared the way for clinical trials aiming to investigate the safety and efficacy of suitabl

SUBMITTER: Mitsios A 

PROVIDER: S-EPMC6311551 | biostudies-literature | 2018 Jan-Dec

REPOSITORIES: biostudies-literature