HISTOPATHOLOGY OF THE EARS, EYES, AND BRAIN IN NORRIES DISEASE (OCULOACOUSTICOCEREBRAL DEGENERATION)

被引：20

作者：

NADOL, JB

EAVEY, RD

LIBERFARB, RM

MERCHANT, SN

WILLIAMS, R

CLIMENHAGER, D

ALBERT, DM

机构：

[1] Departments of Otology and Laryngology, Pediatrics, Ophthalmology

[2] the Department of Otolaryngology, Medical Unit, and the Department of Ophthalmology

[3] Retina Associates and the Eye Research Institute of the Retina Foundation, Boston, MA

[4] Eunice Kennedy Shriver Center, Waltham

[5] and the Billings Clinic, Billings, MT

来源：

AMERICAN JOURNAL OF OTOLARYNGOLOGY | 1990年 / 11卷 / 02期

关键词：

blindness; hearing loss; mental retardation; Norrie's disease; ocular pathology; temporal bone histopathology;

D O I：

10.1016/0196-0709(90)90007-I

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

Norrie's disease is an x-linked recessive disorder characterized by progressive oculoacousticocerebral degeneration. The light and electron microscopic changes in the temporal bones, eyes, and brain of an affected 77-year-old man who suffered from bilateral profound sensorineural hearing loss, blindness, and mental retardation are described. The inner ears showed marked atrophy of the stria vascularis, severe degeneration of hair cells and cochlear neurons, and connective tissue proliferation in the spiral ganglion, osseous spiral lamina, and walls of the membranous vestibular labyrinth. The eyes showed detached retinae, dense proliferation of fibrillary glial cells in the retina and vitreous, severe atrophy of the optic nerves, and degenerative hyalinization of blood vessels. This case is the first published report of the histopathology of the inner ear in Norrie's disease. © 1990.

引用

页码：112 / 124

页数：13

共 25 条

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