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No patient had a family history of hereditary retinaldystrophy.
2
This proband presented with retinaldystrophy and brain lesions including cerebellar atrophy, a phenotype to which the IFT81 variant might contribute.
3
The case study is the first report of short-term results of subthreshold nanolaser treatment in a patient with Doyne honeycomb retinaldystrophy.
4
Recently, several cases of E847K mutation in the HK1 gene were reported to cause inherited retinaldystrophy.
5
Studies on human and animal models of retinaldystrophy have suggested that apoptosis may be the common pathway of photoreceptor cell death.
Usage of retinal dystrophies in English
1
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.