Autosomal dominant optic atrophy. A spectrum of disability

Ophthalmology. 1980 Mar;87(3):245-51. doi: 10.1016/s0161-6420(80)35247-0.


Autosomal dominant optic atrophy is an abiotrophy with an insidious onset in the first decade of life. The clinical features of 31 individuals in six pedigrees are detailed in this study. These data suggest that here is considerable intrafamilial and interfamilial expression of dysfunction. Moreover, asymmetry of the visual loss in not unusual. An unexpected result of this study is the previously unreported frequent association of a neural hearing loss with this disorder.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Color Perception Tests
  • Genes, Dominant
  • Hearing Loss, Sensorineural / complications*
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Nystagmus, Pathologic / complications
  • Optic Atrophy / complications
  • Optic Atrophy / diagnosis
  • Optic Atrophy / genetics*
  • Visual Acuity
  • Visual Fields