Ontology highlight
ABSTRACT:
SUBMITTER: Brambati M
PROVIDER: S-EPMC6874149 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Brambati Maria M Borrelli Enrico E Sacconi Riccardo R Bandello Francesco F Querques Giuseppe G
Clinical ophthalmology (Auckland, N.Z.) 20191118
Choroideremia (CHM) is an X-linked chorioretinal dystrophy characterized by progressive degeneration of the choroid, retinal pigment epithelium and retina. This disease is caused by mutations in the X-linked CHM gene encoding a Ras-related GTPase Rab escort protein (REP)-1, which is extremely important for the retinal function. Clinically, male-affected patients have a progressive reduction in visual acuity. This disease is formally considered incurable, although new promising treatments have be ...[more]