Adrenoleukodystrophy with disease of the eye and optic nerve

Shirley H. Wray, David G. Cogan, Toichiro Kuwabara, Herbert H. Schaumburg, James M. Powers

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

Adrenoleukodystrophy is an X-chromosome-linked recessive disease characterized by primary atrophy of the adrenal glands with or without Addison's disease and low plasma cortisol levels, and a degeneration of white matter of the central nervous system with blindness. In suspected cases of adrenoleukodystrophy an impaired rise in plasma cortisol levels after adrenocorticotrophin stimulation may be diagnostic. With the electron microscope, pathognomonic intracytoplasmic lamellar inclusions have been seen in adrenal cortical cells, peripheral nerve Schwann's cells, testicular interstitial cells, and in macrophages of the brain. Adrenoleukodystrophy appears to be a genetically determined lipid storage disease with an error in membrane sterol metabolism. A 10-year-old boy with adrenoleukodystrophy had visual loss, a prominent early symptom. The ocular abnormality consisted of a disproportionate loss of nerve fibers from the macular region. No intracytoplasmic lamellar inclusions were identified in cells representing macrophages within the optic nerve. They contained myelin debris suggestive of endstage disease.

Original languageEnglish (US)
Pages (from-to)480-485
Number of pages6
JournalAmerican Journal of Ophthalmology
Volume82
Issue number3
DOIs
StatePublished - Sep 1976

ASJC Scopus subject areas

  • Ophthalmology

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    Wray, S. H., Cogan, D. G., Kuwabara, T., Schaumburg, H. H., & Powers, J. M. (1976). Adrenoleukodystrophy with disease of the eye and optic nerve. American Journal of Ophthalmology, 82(3), 480-485. https://doi.org/10.1016/0002-9394(76)90498-0