Article
Experimental studies on medical treatments of retinal dystrophies with a particular focus on ABCA4 retinopathies.
Klinika oczna - 1 Aug 2016
Sciezynska Aneta, Ozieblo Dominica, Oldak Monika
Abstract excerpt
Retinal dystrophies are a group of hereditary diseases varying in clinical and etiological aspects. The most common central retinal dystrophy is Stargardt's disease, which is mainly caused by mutations in the ABCA4 gene. Dysfunction of the ABCA4 gene product leads to accumulation of toxic metabolites of the visual cycle and consequently to the loss of photoreceptors and surrounding retinal pigment epithelial...
Topics
- ATP-Binding Cassette Transporters
- Humans
- Macular Degeneration
- Mutation
- Retinal Dystrophies
- Stargardt Disease