Ontology highlight
ABSTRACT:
SUBMITTER: Heathfield L
PROVIDER: S-EPMC3778365 | biostudies-literature | 2013 Oct
REPOSITORIES: biostudies-literature
Heathfield Laura L Lacerda Miguel M Nossek Christel C Roberts Lisa L Ramesar Rajkumar S RS
European journal of human genetics : EJHG 20130522 10
Stargardt disease is an ABCA4-associated retinopathy, which generally follows an autosomal recessive inheritance pattern and is a frequent cause of macular degeneration in childhood. ABCA4 displays significant allelic heterogeneity whereby different mutations can cause retinal diseases with varying severity and age of onset. A genotype-phenotype model has been proposed linking ABCA4 mutations, purported ABCA4 functional protein activity and severity of disease, as measured by degree of visual lo ...[more]