May present with other ophthalmologic, neurologic, or systemic symptoms/signs/diseases such as hearing loss, ophthalmoplegia, cataracts, myopathy, diabetes mellitus, paraplegia, skin abnormalities, ataxia
point mutations in mitochondrial DNA, predominately males age 15-35, second eye affected within 1 year of first eye affected, pseudoedema and optic atrophy can be seen on exam
Dominant Optic Atrophy
mutations in OPA1 gene of chromosome 3, 4-10 years of age, unaware of visual problem and discovered as consequence of examination of other family members, mild to moderately reduced visual acuity in both eyes, on exam optic atrophy may be subtle, temporal only (triangular excavation), or involve entire disc
Autosomal Recessive Optic Atrophy
discovered before 3-4 years old, consanguinity between parents, severely reduced visual acuity (may have sensory nystagmus), optic discs atrophic and deeply cupped