Optic Atrophy Clinical Presentation

Updated: Jul 20, 2022
  • Author: Gangaprasad Muthaiah Amula, MBBS, DNB, FRCS(Glasg), FICO, FMRF; Chief Editor: Edsel B Ing, MD, PhD, MBA, MEd, MPH, MA, FRCSC  more...
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When examining a patient with a pale disc, nonpathologic causes of optic atrophy must be ruled out (pseudo atrophy), as follows:

  • Axial myopia: The optic disc has a segmental whitish appearance due to an oblique angle of insertion of the optic nerve and nasal displacement of the optic nerve contents.
  • Myelinated nerve fibers: Feathery margins are due to the superficial location, usually adjacent to the disc.
  • Optic nerve pit: Small colobomas are most often located in the inferotemporal portion of the disc.
  • Tilted disc leads to confusion.
  • Optic nerve hypoplasia is characterized by a small disc and peripapillary double ring sign, and the inner ring is actually the optic disc margin.
  • Scleral crescent areas - devoid of retinal pigment epithelium.
  • Optic disc drusen
  • Fundus viewing through an intraocular lens implant
  • Brighter-than-normal luminosity: The luminosity of an indirect ophthalmoscope is approximately 2000 lux and that of a direct ophthalmoscope is up to 900 lux. A disc appears pale if the luminosity of the instrument is brighter than normal.

Optic atrophy in young individuals

Hereditary and congenital optic atrophy generally presents in the first or second decade of life. They can be broadly classified into the following three major groups:

  • Optic atrophy with generalized white matter disease (eg, adrenoleukodystrophy)
  • Optic atrophy with seemingly unrelated systemic features (generally associated with OPA1 gene mutation)
  • Isolated optic atrophy (may be autosomal dominant or recessive mitochondrial inheritance; eg, Leber hereditary optic neuropathy)