congenital or early infantile optic atrophy

Optic Atrophy 6

Clinical Characteristics
Ocular Features: 

Visual impairment is often noted under the age of 6 years.  The disease is bilateral and loss of vision procedes slowly, eventually reaching 20/100 to 20/200.  Moderate photophobia and dyschromatopsia are present but nystagmus is absent.  The impact on the visual field seems to be minimal and limited to decreased sensitivity in the central areas.

Systemic Features: 

No systemic abnormalities are associated.


Evidence for this presumed autosomal recessive type of optic atrophy is based on a single large, consanguineous French Canadian family.  A locus in the 8q21-q22 region presumably containing the mutant gene, designated OPA6, was found.  Linkage analysis excluded genes linked to autosomal dominant optic atrophy.

Another autosomal recessive optic atrophy disorder (OPA7; 612989) has also been reported.

Autosomal recessive
Treatment Options: 

No treatment beyond low vision aids is helpful.

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