Optic Atrophy 4

Clinical Characteristics
Ocular Features: 

This form of optic atrophy is clinically heterogeneous similar to others.  It is less common than OPA1 (165500).  Visual acuity ranges from normal to 6/200.  Individuals that carry the mutation usually have some degree of bilateral optic disc pallor and dyschromatopsia even in the presence of 20/20 acuity.  This profile is present in the first decade of life in some patients with most experiencing acute or subacute loss of vision between the ages of 18 and 35 years.  Vision loss is progressive in the majority of patients but unpredictable with some experiencing rapid decline whereas others have only a slow decline.  Age and visual acuity are not strongly correlated but in general older individuals have worse acuity.

Systemic Features: 

There are no systemic findings in OPA4.


This is an autosomal dominant disorder secondary to mutations in the OPA4 gene at 18q12.2-q12.3.

Other autosomal dominant optic atrophy disorders include OPA1 (125250, 165500) and OPA5 (610708).

Treatment Options: 

No treatment is available for hereditary optic atrophy but low vision aids can be helpful for visual assistance.

Article Title: 


Votruba M, Moore AT, Bhattacharya SS. Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. J Med Genet. 1998 Oct;35(10):793-800. Review.

PubMedID: 9783700

Kerrison JB, Arnould VJ, Ferraz Sallum JM, Vagefi MR, Barmada MM, Li Y, Zhu D, Maumenee IH. Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3. Arch Ophthalmol. 1999 Jun;117(6):805-10.

PubMedID: 10369594