Optic Atrophy 7

Clinical Characteristics
Ocular Features: 

This is an early onset (4 to 6 years of age) optic atrophy in which acuity even at that age may be only 20/200.  Peripheral field constriction occurs late in contrast to its preservation in another autosomal recessive form of early onset optic atrophy, OPA6 (258500).  Atrophy of the optic nerve and loss of vision also occurs more slowly in the latter.

Systemic Features: 

Several individuals have had systemic disease consisting of hypertrophic cardiomyopathy, MRI changes in the brain, and mild hearing loss but these may have been coincidental.

Genetics

This is an autosomal recessive disorder resulting from a mutation in the TMEM126A gene (11q14.1-q21) encoding a mitochondrial protein.

A less severe form of autosomal recessive optic atrophy (OPA6; 258500) has been reported.

Treatment
Treatment Options: 

No effective treatment is available but low vision aids can be helpful in activities of daily living.

References
Article Title: 

References

anein S, Perrault I, Roche O, Gerber S, Khadom N, Rio M, Boddaert N, Jean-Pierre M, Brahimi N, Serre V, Chretien D, Delphin N, Fares-Taie L, Lachheb S, Rotig A, Meire F, Munnich A, Dufier JL, Kaplan J, Rozet JM. TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. Am J Hum Genet. 2009 Apr;84(4):493-8.

PubMedID: 19327736