Histopathology of the ears, eyes, and brain in norrie's disease (oculoacousticocerebral degeneration)

Joseph B. Nadol; Roland D. Eavey; Ruth M. Liberfarb; Saumil N. Merchant; Roger Williams; David Climenhager; Daniel M. Albert

doi:10.1016/0196-0709(90)90007-I

Histopathology of the ears, eyes, and brain in norrie's disease (oculoacousticocerebral degeneration)

Joseph B. Nadol, Roland D. Eavey, Ruth M. Liberfarb, Saumil N. Merchant, Roger Williams, David Climenhager, Daniel M. Albert

Research output: Contribution to journal › Article › peer-review

22 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	112-124
Number of pages	13
Journal	American Journal of Otolaryngology--Head and Neck Medicine and Surgery
Volume	11
Issue number	2
DOIs	https://doi.org/10.1016/0196-0709(90)90007-I
State	Published - 1990
Externally published	Yes

Keywords

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

ASJC Scopus subject areas

Otorhinolaryngology

Access to Document

10.1016/0196-0709(90)90007-I

Cite this

@article{c47c6076b4eb494ababc593479980229,

title = "Histopathology of the ears, eyes, and brain in norrie's disease (oculoacousticocerebral degeneration)",

abstract = "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.",

keywords = "Norrie's disease, blindness, hearing loss, mental retardation, ocular pathology, temporal bone histopathology",

author = "Nadol, {Joseph B.} and Eavey, {Roland D.} and Liberfarb, {Ruth M.} and Merchant, {Saumil N.} and Roger Williams and David Climenhager and Albert, {Daniel M.}",

note = "Funding Information: Received October 31,1988, from the Departments of Otology and Laryngology, Pediatrics, Ophthalmology, Harvard Medical School; the Department of Otolaryngology, Medical Unit, and the Department of Ophthalmology, Massachusetts Eye and Ear Infirmary; Retina Associates and the Eye Research Institute of the Retina Foundation, Boston, MA; the Eunice Kennedy Shriver Center, Waltham, MA; and the Billings Clinic, Billings, MT. Accepted for publication July 30, 1999. Supported by Public Health Service grant no. 2 ROl NS15840-07. Address correspondence and reprint requests to Joseph B. Nadol, Jr, MD, Massachusetts Eye and Ear Infirmary, 243 Charles St, Boston, MA 02114. 0 1990 by W.B. Saunders Company. 0196-0709/90/1102-0002$5.00/0",

year = "1990",

doi = "10.1016/0196-0709(90)90007-I",

language = "English (US)",

volume = "11",

pages = "112--124",

journal = "American Journal of Otolaryngology--Head and Neck Medicine and Surgery",

issn = "0196-0709",

publisher = "W.B. Saunders Ltd",

number = "2",

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T1 - Histopathology of the ears, eyes, and brain in norrie's disease (oculoacousticocerebral degeneration)

AU - Nadol, Joseph B.

AU - Eavey, Roland D.

AU - Liberfarb, Ruth M.

AU - Merchant, Saumil N.

AU - Williams, Roger

AU - Climenhager, David

AU - Albert, Daniel M.

N1 - Funding Information: Received October 31,1988, from the Departments of Otology and Laryngology, Pediatrics, Ophthalmology, Harvard Medical School; the Department of Otolaryngology, Medical Unit, and the Department of Ophthalmology, Massachusetts Eye and Ear Infirmary; Retina Associates and the Eye Research Institute of the Retina Foundation, Boston, MA; the Eunice Kennedy Shriver Center, Waltham, MA; and the Billings Clinic, Billings, MT. Accepted for publication July 30, 1999. Supported by Public Health Service grant no. 2 ROl NS15840-07. Address correspondence and reprint requests to Joseph B. Nadol, Jr, MD, Massachusetts Eye and Ear Infirmary, 243 Charles St, Boston, MA 02114. 0 1990 by W.B. Saunders Company. 0196-0709/90/1102-0002$5.00/0

PY - 1990

Y1 - 1990

N2 - 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.

AB - 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.

KW - Norrie's disease

KW - blindness

KW - hearing loss

KW - mental retardation

KW - ocular pathology

KW - temporal bone histopathology

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JF - American Journal of Otolaryngology--Head and Neck Medicine and Surgery

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ER -

Histopathology of the ears, eyes, and brain in norrie's disease (oculoacousticocerebral degeneration)

Abstract

Keywords

ASJC Scopus subject areas

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