OPA9

Optic Atrophy 9

Clinical Characteristics
Ocular Features: 

Two brothers have been reported with optic atrophy discovered as early as 3 and 5 years of age.  Visual acuity in the 3rd decade of life was in the 20/200 range which was stable into the 4th and 5th decades. They also had red-green dyschromatopsia and thinning of the nerve fiber layer most pronounced in the temporal areas of the retina corresponding to the location of most marked pallor seen in the optic nerve.  The nasal nerve fiber layer seemed to be preserved.  Paracentral scotomas could be demonstrated. 

Systemic Features: 

There were no systemic abnormalities reported in the brothers. 

Genetics

OPA9 is caused by homozygous or compound heterozygous mutations in the ACO2 gene (22q13.2).   

Mutations in ACO2 also cause infantile cerebellar retinal degeneration (ICRD) (614559) in which optic atrophy is a prominent feature associated with retinal degeneration, extensive neurodegenerative disease, and mitral valve dysfunction.  The mode of inheritance is autosomal recessive.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment has been described.

References
Article Title: 

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

Metodiev MD, Gerber S, Hubert L, Delahodde A, Chretien D, Gerard X, Amati-Bonneau P, Giacomotto MC, Boddaert N, Kaminska A, Desguerre I, Amiel J, Rio M, Kaplan J, Munnich A, Rotig A, Rozet JM, Besmond C. Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. J Med Genet. 2014 Dec;51(12):834-8.

PubMed ID: 
25351951
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