Significados de retinal dystrophies en inglés

Fourteen families with genetically determined posterior retinal dystrophies were studied by fluorescein angiography.

Single gene defects cause the majority of these retinal dystrophies.

Initially, the identification of a mutation in the rds mouse model defined the role of this gene in hereditary retinal dystrophies.

Mouse mutants with retinal dystrophies have provided a valuable resource to discover human disease genes and helped uncover pathways critical for photoreceptor function.

Inherited retinal dystrophies represent the most important cause of vision impairment in adolescence, affecting approximately 1 out of 3000 individuals.

The molecular data for CRB1 and RPE65 support previous hypotheses that LCA can represent the severe end of a spectrum of retinal dystrophies.