This condition is caused by mutations in the NR2F1 gene. This gene is located on the long arm of chromosome 5 (5q15).The gene encodes a protein that acts as a nuclear receptor and transcriptional regulator. This condition is inherited in an autosomal dominant fashion.
Bosch-Boonstra-Schaaf optic atrophy syndrome
Leber's hereditary optic neuropathy
Akureyri disease
Alexander disease
Farber disease
Spastic ataxia-corneal dystrophy syndrome
Multiple evanescent white dot syndrome
Leber congenital amaurosis