Metabolic, hereditary, traumatic, and neoplastic optic neuropathies

Purpose of review: Toxic, nutritional, hereditary, traumatic, and neoplastic optic neuropathies result in significant disability due to visual dysfunction. Many of these conditions are treatable. Early diagnosis may allow for intervention to stabilize or improve vision and prevent unnecessary testing. These conditions have overlapping clinical features, and careful assessment of the visual system allows for accurate diagnosis and management.

Recent findings: Newer treatment strategies are available for optic neuropathies previously thought untreatable, such as some hereditary optic neuropathies. Many conditions that previously were felt to represent distinct diseases can be linked by a common pattern of mitochondrial dysfunction.

Summary: The optic nerve is susceptible to a wide variety of pathologic processes. The correct diagnosis depends on a thorough history and detailed evaluation of the visual system. Certain optic neuropathies selectively affect the papillomacular bundle, and particular attention to this location can considerably narrow the differential diagnosis and subsequent workup.