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

  • 1 February 1976
    • journal article
    • case report
    • Vol. 15  (2) , 128-38
Abstract
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.

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