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

Investigative ophthalmology ·Vol. 15 ·No. 2 ·1976-02-00 ·Pages 128-38

Wray SH, Kuwabara T, Sanderson P

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

Brain Diseases/genetics Child, Preschool Copper/deficiency Deficiency Diseases/complications Epithelium/drug effects Eye Diseases/etiology,pathology Eye Manifestations Growth Disorders Hair Humans Infant Intellectual Disability Male Microscopy, Electron Mitochondrial Swelling Optic Atrophy/etiology Retinal Degeneration/pathology Retinal Diseases/etiology

Chemicals

Copper

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Wray S H

Kuwabara T

Sanderson P

Article Info

Journal

Investigative ophthalmology

Abbr.

Invest Ophthalmol

ISSN

0020-9988

Published

1976-02-00

Pages

128-38

Language

English

Region

United States

NLM ID

0374730

Subset

External Links

PubMed source

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

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