Hereditary optic neuropathies.

Abstract

The hereditary optic neuropathies comprise a group of disorders in which the cause of optic nerve dysfunction seems to be heritable as demonstrated or suggested by familial expression or genetic analysis. Clinical variability, both within and among families with the same disease, often makes recognition and classification difficult. Genetic analysis now permits diagnosis of some of the hereditary optic neuropathies in the absence of family history or in the setting of unusual clinical presentations. The hereditary optic neuropathies are classified into three major groups: those that occur primarily without associated neurologic or systemic signs, those that frequently have associated neurologic or systemic signs, and those where the optic neuropathy is secondary in the overall disease process. This article reviewed the different hereditary optic neuropathies and emphasized the most common types.