Menkes' kinky hair disease: a light and electron microscopic study of the eye

Invest Ophthalmol. 1976 Feb;15(2):128-38.


Light and electron microscopic studies of the ocular tissue of a case of Menkes' kinky hair disease are described. The copper deficiency responsible for this systemic and neurologic disease appears to cause a progressive degeneration of retinal ganglion cells, loss of nerve fibers, and optic atrophy. The pigment epithelium is also abnormal with only small and irregular melanin granules present among electron-dense inclusion bodies. Abnormal elastica is present in Bruch's membrane.

Publication types

  • Case Reports

MeSH terms

  • Brain Diseases / genetics*
  • Child, Preschool
  • Copper / deficiency
  • Deficiency Diseases / complications
  • Epithelium / drug effects
  • Eye Diseases / etiology
  • Eye Diseases / pathology*
  • Eye Manifestations
  • Growth Disorders*
  • Hair
  • Humans
  • Infant
  • Intellectual Disability
  • Male
  • Microscopy, Electron
  • Mitochondrial Swelling
  • Optic Atrophy / etiology
  • Retinal Degeneration / pathology
  • Retinal Diseases / etiology


  • Copper