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

More general terms

• optic atrophy
• genetic disease of the eye

Additional terms

• dynamin-like 120 kD protein, mitochondrial; optic atrophy protein 1; contains: dynamin-like 120 kD protein, form S1 (OPA1, KIAA0567)

Database

• OMIM: https://mirror.omim.org/entry/165500