Optic disk pallor and retinal atrophy in Sotos syndrome (cerebral gigantism)

Am J Ophthalmol. 2000 Dec;130(6):853-4. doi: 10.1016/s0002-9394(00)00711-x.


Purpose: To report a case of Sotos syndrome (cerebral gigantism) with megalophthalmos, optic disk pallor, and retinal atrophy.

Methods: Case report.

Results: A 22-year-old man was diagnosed with Sotos syndrome with optic atrophy. His corneal diameters were 13 mm horizontally, and his optic disks were pale. His retinal vessels were attenuate in diameter, and small white spots were found on the retina. The results of a Goldmann visual field test were normal. His visually evoked potential to flash stimuli showed extended latent times and normal amplitudes. Keratometry was 40.5 diopters (8.33 mm) in both eyes. The axial length was 25.9 mm in the right eye and 25.4 mm in the left eye.

Conclusion: Sotos syndrome may be associated with optic disk pallor and retinal atrophy.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / etiology*
  • Adult
  • Atrophy
  • Brain / abnormalities*
  • Cornea / abnormalities
  • Evoked Potentials, Visual
  • Eye Abnormalities / etiology*
  • Gigantism / complications*
  • Humans
  • Male
  • Optic Disk / pathology*
  • Optic Nerve Diseases / diagnosis
  • Optic Nerve Diseases / etiology*
  • Retina / pathology*
  • Syndrome
  • Visual Fields