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.

Treatment Options: 

No treatment is available for the optic atrophy.

Article Title: 


Katz BJ, Zhao Y, Warner JE, Tong Z, Yang Z, Zhang K. A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2. Am J Med Genet A. 2006 Oct 15;140(20):2207-11.

PubMedID: 16969871

Assink JJ, Tijmes NT, ten Brink JB, Oostra RJ, Riemslag FC, de Jong PT, Bergen AA. A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome. Am J Hum Genet. 1997 Oct;61(4):934-9.

PubMedID: 9382106