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optic atrophy 1 (Kyer-type optic atrophy)
Epidemiology:
- 1 in 50,000
Genetics:
- dominantly inherited
- associated with mutations in OPA1 gene
Clinical manifestations:
- progressive loss in visual acuity
- often leads to legal blindness
Related
dynamin-like 120 kD protein, mitochondrial; optic atrophy protein 1; contains: dynamin-like 120 kD protein, form S1 (OPA1, KIAA0567)
General
optic atrophy
genetic disease of the eye
Database Correlations
OMIM 165500
References
OMIM :accession 165500