Heterogeneity of retinal degeneration and hearing impairment syndromes

J. B. Bateman; E. D. Riedner; L. S. Levin; I. H. Maumenee

doi:10.1016/S0002-9394(14)75190-6

Heterogeneity of retinal degeneration and hearing impairment syndromes

J. B. Bateman, E. D. Riedner, L. S. Levin, I. H. Maumenee

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

14 Scopus citations

Abstract

Retinal abnormalities associated with hearing loss may be inherited alone or with additional manifestations. Environmental insults, such as rubella embryopathy, may also cause these abnormalities. We studied 13 patients with retinal abnormalities and hearing loss. Five had Usher's syndrome (retinitis pigmentosa and hearing impairment), one had crystalline retinopathy, two had associated enamel dysplasias, two had clumped pigmentary retinopathy, and three had Amalric-Diallines syndrome. Our findings suggest considerable heterogeneity of syndromes involving retinal abnormalities and hearing loss.

Original language	English (US)
Pages (from-to)	755-767
Number of pages	13
Journal	American journal of ophthalmology
Volume	90
Issue number	6
DOIs	https://doi.org/10.1016/S0002-9394(14)75190-6
State	Published - 1980
Externally published	Yes

ASJC Scopus subject areas

Ophthalmology

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10.1016/S0002-9394(14)75190-6

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title = "Heterogeneity of retinal degeneration and hearing impairment syndromes",

abstract = "Retinal abnormalities associated with hearing loss may be inherited alone or with additional manifestations. Environmental insults, such as rubella embryopathy, may also cause these abnormalities. We studied 13 patients with retinal abnormalities and hearing loss. Five had Usher's syndrome (retinitis pigmentosa and hearing impairment), one had crystalline retinopathy, two had associated enamel dysplasias, two had clumped pigmentary retinopathy, and three had Amalric-Diallines syndrome. Our findings suggest considerable heterogeneity of syndromes involving retinal abnormalities and hearing loss.",

author = "Bateman, {J. B.} and Riedner, {E. D.} and Levin, {L. S.} and Maumenee, {I. H.}",

note = "Funding Information: From the Departments of Ophthalmology (Drs. Bateman and Maumenee) and Otolaryngology (Drs. Riedner and Levin), Johns Hopkins University School of Medicine and Hospital, Baltimore, Maryland. This study was supported in part by Research Career Development Award K04 DEOOO21 from the National Institutes of Health (Dr. Levin) and research grant ROI 01773 from the National Eye Institute (Dr. Maumenee). Dr. Bateman was a Heed Foundation Fellow (1979). Reprint requests to Irene H. Maumenee, M.D., Wilmer Eye Institute, Room HI, Johns Hopkins Hospital, Baltimore, MD 21205.",

year = "1980",

doi = "10.1016/S0002-9394(14)75190-6",

language = "English (US)",

volume = "90",

pages = "755--767",

journal = "American journal of ophthalmology",

issn = "0002-9394",

publisher = "Elsevier USA",

number = "6",

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T1 - Heterogeneity of retinal degeneration and hearing impairment syndromes

AU - Bateman, J. B.

AU - Riedner, E. D.

AU - Levin, L. S.

AU - Maumenee, I. H.

N1 - Funding Information: From the Departments of Ophthalmology (Drs. Bateman and Maumenee) and Otolaryngology (Drs. Riedner and Levin), Johns Hopkins University School of Medicine and Hospital, Baltimore, Maryland. This study was supported in part by Research Career Development Award K04 DEOOO21 from the National Institutes of Health (Dr. Levin) and research grant ROI 01773 from the National Eye Institute (Dr. Maumenee). Dr. Bateman was a Heed Foundation Fellow (1979). Reprint requests to Irene H. Maumenee, M.D., Wilmer Eye Institute, Room HI, Johns Hopkins Hospital, Baltimore, MD 21205.

PY - 1980

Y1 - 1980

N2 - Retinal abnormalities associated with hearing loss may be inherited alone or with additional manifestations. Environmental insults, such as rubella embryopathy, may also cause these abnormalities. We studied 13 patients with retinal abnormalities and hearing loss. Five had Usher's syndrome (retinitis pigmentosa and hearing impairment), one had crystalline retinopathy, two had associated enamel dysplasias, two had clumped pigmentary retinopathy, and three had Amalric-Diallines syndrome. Our findings suggest considerable heterogeneity of syndromes involving retinal abnormalities and hearing loss.

AB - Retinal abnormalities associated with hearing loss may be inherited alone or with additional manifestations. Environmental insults, such as rubella embryopathy, may also cause these abnormalities. We studied 13 patients with retinal abnormalities and hearing loss. Five had Usher's syndrome (retinitis pigmentosa and hearing impairment), one had crystalline retinopathy, two had associated enamel dysplasias, two had clumped pigmentary retinopathy, and three had Amalric-Diallines syndrome. Our findings suggest considerable heterogeneity of syndromes involving retinal abnormalities and hearing loss.

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IS - 6

ER -

Heterogeneity of retinal degeneration and hearing impairment syndromes

Abstract

ASJC Scopus subject areas

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