Literature DB >> 1245386

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

S H Wray, T Kuwabara, P Sanderson.   

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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Year:  1976        PMID: 1245386

Source DB:  PubMed          Journal:  Invest Ophthalmol        ISSN: 0020-9988


  11 in total

1.  Electron microscopic study of retinas of macular mice.

Authors:  K Mishima; Y Dake; T Amemiya; M Nishimura
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1996-08       Impact factor: 3.117

2.  Ophthalmological findings in a girl with Menkes-like disease.

Authors:  K Tuppurainen; E Airaksinen; M Mäntyjärvi
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1994-07       Impact factor: 3.117

3.  Menkes kinky-hair disease. A report on its pathology.

Authors:  J J Martin; J Flament-Durand; J P Farriaux; N Buyssens; P Ketelbant-Balasse; C Jansen
Journal:  Acta Neuropathol       Date:  1978-04-26       Impact factor: 17.088

4.  Decreased thickness and integrity of the macular elastic layer of Bruch's membrane correspond to the distribution of lesions associated with age-related macular degeneration.

Authors:  N H Victor Chong; Jason Keonin; Phil J Luthert; Christina I Frennesson; David M Weingeist; Rachel L Wolf; Robert F Mullins; Gregory S Hageman
Journal:  Am J Pathol       Date:  2005-01       Impact factor: 4.307

Review 5.  Age-related macular degeneration--emerging pathogenetic and therapeutic concepts.

Authors:  Karen M Gehrs; Don H Anderson; Lincoln V Johnson; Gregory S Hageman
Journal:  Ann Med       Date:  2006       Impact factor: 4.709

6.  Neuronal degeneration in the brain of the brindled mouse. I. Chromological studies on the long-surviving group.

Authors:  K Yajima; K Suzuki
Journal:  Acta Neuropathol       Date:  1979-11       Impact factor: 17.088

7.  Menkes' kinky hair disease: clinical and experimental study.

Authors:  I Watanabe; Y Watanabe; E Motomura; M Nishimura; M Yazaki
Journal:  Doc Ophthalmol       Date:  1985-08-30       Impact factor: 2.379

8.  Generalized giant axonal neuropathy: a filament-forming disease of neuronal, endothelial, glial, and schwann cells in a patient without kinky hair.

Authors:  J Peiffer; W Schlote; A Bischoff; E Boltshauser; G Müller
Journal:  Acta Neuropathol       Date:  1977-11-28       Impact factor: 17.088

9.  Microcysts of the human iris pigment epithelium.

Authors:  R Fischer; P Henkind; S Gartner
Journal:  Br J Ophthalmol       Date:  1979-11       Impact factor: 4.638

10.  Copper metabolism in American retinitis pigmentosa patients.

Authors:  M F Marmor; J W Nelson; A S Levin
Journal:  Br J Ophthalmol       Date:  1978-03       Impact factor: 4.638

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