Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome

Abstract excerpt

Optic nerve atrophy represents the most common form of hereditary optic neuropathies leading to vision impairment. The recently described Bosch-Boonstra-Schaaf optic atrophy (BBSOA) syndrome denotes an autosomal dominant genetic form of neuropathy caused by mutations or deletions in the NR2F1 gene. Herein, we describe a mouse model recapitulating key features of BBSOA patients-optic nerve atrophy, optic disc...

Topics

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

• Share to Neutrophil, Myeloperoxidase and Oxidative Mechanisms
• Share to Retinal Development and Disorders
• Share to Telomeres, Telomerase, and Senescence