Costeff optic atrophy syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Costeff optic atrophy syndrome. This is caused by mutations in the OPA3 gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the OPA3 gene
- The transmission is autosomal recessive
- It is prevalent in people of Iraqi Jewish descent
Clinical features
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Occasional features
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Urinary features
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Differential diagnosis
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Synonyms
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References
- Ho G, Walter JH, Christodoulou J. Costeff optic atrophy syndrome: new clinical case and novel molecular findings. J Inherit Metab Dis 2008; 31 (Suppl 2):S419-S423.
- Yahalom G, Anikster Y, Huna-Baron R, et al. Costeff syndrome: clinical features and natural history. J Neurol 2014; 261:2275-2282.
- Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet 2001; 69:1218-1224.
- Carmi N, Lev D, Leshinsky-Silver E, et al. Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. Eur J Paediatr Neurol 2015; 19:733-736.
- Straussberg R, Brand N, Gadoth N. 3-Methyl glutaconic aciduria in Iraqi Jewish children may be misdiagnosed as cerebral palsy. Neuropediatrics 1998; 29:54-56.
