Significados de fundus dystrophies en inglés

No patient had a family history of hereditary retinal dystrophy.

This proband presented with retinal dystrophy and brain lesions including cerebellar atrophy, a phenotype to which the IFT81 variant might contribute.

The case study is the first report of short-term results of subthreshold nanolaser treatment in a patient with Doyne honeycomb retinal dystrophy.

Recently, several cases of E847K mutation in the HK1 gene were reported to cause inherited retinal dystrophy.

Studies on human and animal models of retinal dystrophy have suggested that apoptosis may be the common pathway of photoreceptor cell death.

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.