Optic Atrophy 2, X-Linked

Clinical Characteristics
Ocular Features: 

Visual symptoms can begin in early childhood (males only) and vision deteriorates slowly.  All affected individuals have optic atrophy with acuities ranging from 20/30 to 20/100.  ERGs are usually normal whereas VEPs show prolonged latencies.  Color vision is variably defective and central scotomas are present.

Systemic Features: 

Some but not all patients have additional neurological signs including absent ankle jerks, hyperactive knee jerks, extensor plantar reflexes, dysarthria and dysdiadochokinesia.  Symptoms are usually minor.  Obligatory female carriers do not have optic atrophy or neurologic signs.  Mental retardation has been reported in a few patients.


This is an X-linked recessive disorder secondary to a mutation in OPA2 (Xp11.4-p11.21). Only males are affected and female carriers are clinically normal.

X-linked recessive, carrier mother
X-linked recessive, father affected
Treatment Options: 

No treatment is available for the optic atrophy.

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