Abstract
A pedigree of Menkes' kinky hair disease (MKHD) is reported. One patient of this family who underwent copper treatment was followed for three years with fundus examinations and ERG measurement. The blood copper level remained normal after six months of age, when intravenous treatment was switched from cupric acetate to cupric sulfate. Optic nerve atrophy and decrease in amplitude of the ERG were observed at three years of age.
In an experiment using mouse models of MKHD (macular mouse mutant, Moml), we compared the affected mice that received copper treatment with normal mice. However, there was no difference between them in ERG responses, number of ganglion cells, or thickness of retinal layers.
These results support the possibility of prolonged survival and maintained vision in the patients of MKHD by earlier normalization of the copper level.
Similar content being viewed by others
References
Billings DM and Degan (1971) Kinky hair syndrome. Am J Dis Child 121:447–449
Danks DM, Campbell PE, Stevens BJ, Mayne V and Cartwright E (1972) Menkes' kinky hak syndrome. An inherited defect in copper absorption with widespread effect. Pediatrics 50:188–201
Danks DM, Stevens BJ, Campbell PE, Gillespie JM, Walker-Smith J, Bloomfield J and Turner B (1972b) Menkes' kinky hair syndrome. Lancet 1:1100–1103
Grover WD, Johnson WC and Henkind RI (1979) Clinical and biochemical aspect of Trichopoliodystrophy. Ann Neurol 5:65–71
Horn N and Warburg W (1976) Menkes disease. Birth defect original article series. Vol. XII, No. 3:557–562
Levy NS, Dowson WW, Rhodes BJ and Garcia A (1974) Ocular abnormalities in Menkes' kinky hair syndrome. Am J Ophthalmol 77:319–325
Menkes JH, Alter M, Stiefleder GK, Weakley DR and Sund JH (1962) A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Pediatrics 29:764–779
Nishimura M (1980) Abnormalities of copper metabolism in macular mouse. In: Ann Rep Res Committee of exp model of intractable disease, ed: Kyogoku M. The Ministry of Health and Welfare, Japan, pp 156–160
Seelenfreund HM, Gartner S and Vinger PE (1968) The ocular pathology of Menkes' disease. Arch Ophthalmol 80:718–720
Watanabe I and Hellner KA (1974) Threshold of the oscillatory potentials in mice. Doc Ophthalmol Proc Ser 4:471–476
Watanabe I and Hellner KA (1975) Spectral sensitivity of the oscillatory potential II. On mice. Acta Soc Ophthalmol Jpn 78:1449–1455
Wray SH, Kuwabara T and Sanderson P (1976) Menkes' kinky hak disease, a light and electronmicroscopic study of the eye. Invest Ophthalmol 15:128–138
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Watanabe, I., Watanabe, Y., Motomura, E. et al. Menkes' kinky hair disease: Clinical and experimental study. Doc Ophthalmol 60, 173–181 (1985). https://doi.org/10.1007/BF00158032
Issue Date:
DOI: https://doi.org/10.1007/BF00158032