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Hereditary Optic Neuropathies 

Hereditary Optic Neuropathies
Chapter:
Hereditary Optic Neuropathies
Author(s):

David A. Mackey

DOI:
10.1093/med/9780195326147.003.0039
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date: 02 December 2020

Hereditary optic neuropathies are a group of disorders characterized by optic nerve damage in which the underlying cause seems to be heritable.1 Optic atrophy is a clinical state in which there is pallor of the optic nerve due to loss of ganglion cell axons and supporting microvascular tissue, often associated with decreased vision. Optic neuropathy is a more general term that includes the early phase of the disease, when optic atrophy may not yet be present. Clinical severity may vary from asymptomatic to complete blindness. Hereditary causes of optic neuropathy may occur as a primary event or secondary to adjacent compression (as would occur with a hereditary tumor in neurofibromatosis) or degeneration (as occurs in the later stages of retinitis pigmentosa). Although glaucoma is an optic neuropathy and has features similar to the other hereditary optic neuropathies, it is not included in this chapter. Primary optic atrophy may occur as an isolated event or may be associated with other systemic manifestations. The main variants are autosomal dominant optic atrophy (ADOA) and Leber's hereditary optic neuropathy (LHON), with Wolfram syndrome (DIDMOAD) and other neurodegenerative diseases occurring less commonly. Mitochondrial dysfunction appears to be the common denominator in hereditary optic neuropathies. The energy demands of the photo receptors are greater than the retinal ganglion cell, but some feature of the mitochondria at the lamina cribrosa makes them susceptible.2

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