Menkes described a previously unrecognized entity of cerebellar and focal cerebral degeneration, with kinky hair, failure to thrive and early death occurring in boys only. This report notes important changes in the eyes which were found on histological examination: microcysts in the pigment epithelium of the iris, marked decrease in retinal ganglion cells, and partial atrophy of the optic nerve. The biochemical defect in this disease is unknown.
Seelenfreund MH, Gartner S, Vinger PF. The Ocular Pathology of Menkes' Disease: (Kinky Hair Disease). Arch Ophthalmol. 1968;80(6):718–720. doi:10.1001/archopht.1968.00980050720007
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