[Hereditary optic atrophies].

Abstract excerpt

Hereditary optic neuropathies are caused by mutations either in the nuclear or mitochondrial genome and lead to retinal ganglion cell death mediated by reduced oxidative phosphorylation, fragmentation of the mitochondrial network, and increased sensitivity to apoptosis. Nuclear mutations result in autosomal dominant optic atrophy, autosomal recessive optic atrophy, or X-linked recessive optic atrophy, whereas...

Topics

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

• Share to Genetic Predisposition to Disease
• Share to Genetic Testing
• Share to Germany