Hereditary optic neuropathies

Abstract

Hereditary optic neuropathies comprise a group of disorders of the optic nerve that may be inherited in an autosomal recessive, autosomal dominant, X-linked, or maternal familial pattern. These disorders should be included in differential diagnosis of both congenital and acquired vision loss. They often present with a painless, slowly progressive, bilateral decreased vision. As in the case of LHON, a hereditary optic neuropathy may have an acute presentation. Clinical examination is characterized by bilateral decreased visual acuity, central scotomas on visual field testing, decreased color vision, and optic atrophy. Though a combination of family history, clinical presentation, age of onset, and associated findings may distinguish disorders, diagnosis may be facilitated by genetic testing.