Autosomal dominant retinitis pigmentosa with toxic gain of function: Mechanisms and therapeutics.

Abstract excerpt

Autosomal dominant retinitis pigmentosa is a form of retinitis pigmentosa, an inherited retinal degenerative disorder characterized by progressive loss of photoreceptors eventually leading to irreversible loss of vision. Mutations in genes involved in the basic functions of the visual system give rise to this condition. These mutations can either lead to loss of function or toxic gain of function phenotypes....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Gain of Function Mutation
• Share to Genes, Dominant