NBEO Neuroscience Practice Test

Dominant optic atrophy is the most common hereditary optic neuropathy. It’s usually autosomal dominant and most often results from mutations in the OPA1 gene, leading to degeneration of retinal ganglion cell axons and a thinning of the optic nerve, particularly affecting the central vision. Clinically this presents as an insidious, bilateral central vision loss beginning in childhood or adolescence, with color vision difficulties and progressive pallor of the optic discs, especially around the temporal fibers.

The other conditions differ in origin and presentation. Leber’s optic neuropathy is a mitochondrial disorder inherited maternally and often causes an acute or subacute central vision loss, but it is not the most common hereditary optic atrophy. Optic nerve hypoplasia is a congenital underdevelopment of the optic nerve rather than a degenerative atrophy. Retinitis pigmentosa is primarily a retinal degenerative disease causing peripheral vision loss and night blindness, not a primary optic nerve atrophy.