Article
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.
Brain : a journal of neurology - 13 Feb 2023
Rocatcher Aude, Desquiret-Dumas Valérie, Charif Majida, Ferré Marc, Gohier Philippe, Mirebeau-Prunier Delphine, Verny Christophe, Milea Dan, Lenaers Guy, Bonneau Dominique, Reynier Pascal, Amati-Bonneau Patrizia
Abstract excerpt
Hereditary optic neuropathies are caused by the degeneration of retinal ganglion cells whose axons form the optic nerves, with a consistent genetic heterogeneity. As part of our diagnostic activity, we retrospectively evaluated the combination of Leber hereditary optic neuropathy mutations testing with the exon sequencing of 87 nuclear genes on 2186 patients referred for suspected hereditary optic neuropathies....
Topics
- Humans
- Optic Atrophy, Hereditary, Leber
- Retrospective Studies
- Optic Atrophy, Autosomal Dominant
- Optic Nerve Diseases
- Mutation
- DNA, Mitochondrial
- ATPases Associated with Diverse Cellular Activities
- ATP-Dependent Proteases