Ontology highlight
ABSTRACT:
SUBMITTER: Bujakowska K
PROVIDER: S-EPMC3293109 | biostudies-literature | 2012 Feb
REPOSITORIES: biostudies-literature
Human mutation 20111227 2
Mutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (LCA) to rod-cone dystrophy, also called retinitis pigmentosa (RP). Moreover, retinal dystrophies resulting from CRB1 mutations may be accompanied by specific fundus features: preservation of the para-arteriolar retinal pigment epithelium (PPRPE) and retinal telangiectasia with exudation (also referred to as Coats-like vasculopathy). In this publication, we re ...[more]