We are using cookies This website uses cookies in order to offer you the most relevant information. By browsing this website, you accept these cookies.
Fourteen families with genetically determined posterior retinaldystrophies were studied by fluorescein angiography.
2
Single gene defects cause the majority of these retinaldystrophies.
3
Initially, the identification of a mutation in the rds mouse model defined the role of this gene in hereditary retinaldystrophies.
4
Mouse mutants with retinaldystrophies have provided a valuable resource to discover human disease genes and helped uncover pathways critical for photoreceptor function.
5
Inherited retinaldystrophies represent the most important cause of vision impairment in adolescence, affecting approximately 1 out of 3000 individuals.
6
The molecular data for CRB1 and RPE65 support previous hypotheses that LCA can represent the severe end of a spectrum of retinaldystrophies.