Optic atrophy

Read more about this disease, some with Classification – Types – Signs and symptoms – Genetics – Pathophysiology – Diagnosis – Screening – Prevention – Treatment and management – Cures and much more, some including pictures and video when available.

Optic atrophy is the loss of some or most of the fibers of the optic nerve.[1] In medicine, “atrophy” usually means “shrunken but capable of regrowth”, so some argue that “optic atrophy” as a pathological term is somewhat misleading and use “optic neuropathy” instead.

The optic nerve is part of the brain and has no capability for regeneration. Hence, there can be no recovery from optic atrophy and the term may refer to serious or mild, but always irreversible visual loss due to damage to the optic nerve. Three types of degeneration are seen: transsynaptic, anterograde, and retrograde.

There may be symptoms associated with loss of vision (although there may be a particular difficulty with colour vision).

Bilateral Optic Atrophy: Loss of vision and discoloration of discs in both eyes. This is a genetic form and can be inherited.

Optic atrophy can be congenital or acquired.

If congenital, it is usually hereditary with an onset of deterioration in childhood and may be accompanied by nystagmus. Leber’s Hereditary Optic Neuropathy, (LHON) or Leber Optic Atrophy is hereditary, but typically has its onset in 20-30 year old males. This is due to a mutation of the mitochondrial genome and hence is passed exclusively through the mothers. Dominant optic atrophy or Kjer’s optic neuropathy has autosomal dominant inheritance. It usually presents in early childhood. There are numerous less common genetically related syndromes.[2]

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