title: Menkes' kinky hair disease: a light and electron microscopic study of the eye.
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.
mesh_terms: D001927:Brain Diseases / Q000235:genetics*; D002675:Child, Preschool; D003300:Copper / Q000172:deficiency; D003677:Deficiency Diseases / Q000150:complications; D004848:Epithelium / Q000187:drug effects; D005128:Eye Diseases / Q000209:etiology / Q000473:pathology*; D005132:Eye Manifestations; D006130:Growth Disorders; D006197:Hair; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D008854:Microscopy, Electron; D008933:Mitochondrial Swelling; D009896:Optic Atrophy / Q000209:etiology; D012162:Retinal Degeneration / Q000473:pathology; D012164:Retinal Diseases / Q000209:etiology
chemical_list: D003300:Copper