Significats de retinal dystrophy en anglès

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.

SRD5A3 and other glycosylation disorder genes should be considered as a cause of retinal dystrophy even when systemic features are mild.

We found three unrelated patients with a disease-causing DRAM2 variant in a biallelic state from 1555 Japanese individuals of 1314 families with inherited retinal dystrophy.

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.