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

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


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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