A clinicopathologic study of autosomal dominant optic atrophy

Am J Ophthalmol. 1979 Nov;88(5):868-75. doi: 10.1016/0002-9394(79)90565-8.


Of a family with 40 members, 12 had autosomal dominant optic atrophy. The affected members were aware of reduced vision from the first decade. Visual loss was moderate to severe, 6/12 (20/40) to 3/60 (10/200). The affected members showed similar centrocecal scotomata. Most affected patients had severe unclassified color defects. Electroretinography measurements were normal in all but one patient who had a small reduction in the scotopic response. The pathologic changes in a patient with autosomal dominant optic atrophy showed diffuse atrophy of the ganglion cell layer of the retina with a loss of myelin and nerve tissue within the optic nerves. We suggest that autosomal dominant atrophy is a primary degeneration of retinal ganglion cells.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Child
  • Color Vision Defects / complications
  • Color Vision Defects / genetics
  • Demyelinating Diseases / pathology
  • Electroretinography
  • Female
  • Ganglia / pathology
  • Genes, Dominant
  • Humans
  • Male
  • Middle Aged
  • Optic Atrophy / diagnosis
  • Optic Atrophy / genetics*
  • Optic Atrophy / pathology
  • Optic Nerve / pathology*
  • Optic Nerve / ultrastructure
  • Pedigree
  • Retina / pathology
  • Scotoma / etiology
  • Visual Fields