Hereditary optic neuropathies.
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.
Kerrison
J B
JB
Wilmer Ophthalmological Institute, Johns Hopkins Hospital, Baltimore, Maryland, USA. jokerrison@jhmi.edu
D003937:Diagnosis, Differential; D030342:Genetic Diseases, Inborn; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D009901:Optic Nerve Diseases / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics