Walsh and Hoyt's Clinical Neuro-Ophthalmology

Hereditary Optic Neuropathies

"The hereditary optic neuropathies comprise a group of disorders in which the cause of optic nerve dysfunction appears to be hereditable, based onfamilial expressionor genetic analysis (1,2)."

"The hereditary optic neuropathies comprise a group of disorders in which the cause of optic nerve dysfunction appears to be hereditable, based onfamilial expressionor genetic analysis (1,2). Clinical variability, both within and among families with the same disease, often makes recognitionan d classificationdifficult. Traditionally, classification has relied on the recognition of similar characteristics and similar patterns of transmission, but genetic analysis now permits diagnosis of the hereditary optic neuropathies in the absence of family history or in the setting of unusual clinical presentations. As a result, the clinical phenotypes of each disease are broader, and it is easier to recognize unusual cases."