Autosomal Dominant Optic Atrophy

Change Language German

Clinical Presentation

  • Children with bilateral painless visual impairment, typically at 0.2-0.4, often noticed only in school age
  • Autosomal-dominant inheritance, mutations in OPA1 (75%) and OPA3 (1%) genes
  • Optic discs with pseudo-glaucomatous excavation (typically > 0.5 Cup-Disc Ratio), flat margins, temporally pale 1
  • OCT: papillomacular bundle with thinned RNFL
  • Visual field: Central scotoma / centrocecal scotoma
  • Tritanopia (blue-yellow color blindness)
  • ADOA plus phenotype: additional symptoms such as hearing loss, polyneuropathy, myopathy, ataxia, CPEO
    • Typically, a more severe course, lower visual acuity


  • Genetic testing (OPA1, OPA3).


  • No established therapy: Coenzyme Q-10 (CoQ), Idebenone, supplements such as Vitamin B12, C, and Lutein.
  • Avoid smoking and alcohol, no excessive sports (e.g., marathon).

Differential Diagnosis

  • Leber’s hereditary optic neuropathy (LHON)