Ontology highlight
ABSTRACT:
SUBMITTER: Musarella MA
PROVIDER: S-EPMC2964907 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
Musarella Maria A MA Macdonald Ian M IM
Journal of ophthalmology 20101011
Inherited retinal degenerations, including retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), affect 1 in 4000 individuals in the general population. A majority of the genes which are mutated in these conditions are expressed in either photoreceptors or the retinal pigment epithelium (RPE). There is considerable variation in the clinical severity of these conditions; the most severe being autosomal recessive LCA, a heterogeneous retinal degenerative disease and the commonest cause o ...[more]