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Costeff optic atrophy syndrome; 3-methylglutaconic aciduria type 3; optic atrophy plus syndrome
neuroophthalmologic syndrome
Clinical manifestations:
1) early-onset bilateral optic atrophy
2) later-onset spasticity
3) extrapyramidal dysfunction,
4) cognitive deficit
Laboratory:
- increased urinary excretion of
a) 3-methylglutaconic acid
b) 3-methglutaric acid
- OPA3 gene mutation
General
methylglutaconicaciduria
optic atrophy plus syndrome
References
OMIM :accession 258501