Macular colobomas in Leber's congenital amaurosis

Sheila Margolis; Barry M. Scher; Ronald E. Carr

doi:10.1016/0002-9394(77)90187-8

Macular colobomas in Leber's congenital amaurosis

Sheila Margolis, Barry M. Scher, Ronald E. Carr

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Abstract

Two siblings with Leber's congenital amaurosis had the unusual association of bilateral macular colobomas. In addition to the colobomas, the patients also had deafmutism, severe myopia, large corneas, and an unusual discrete area of peripapillary tapetoretinal sheen. Electrodiagnostic evaluation of patients with congenitally poor visual acuity and a central retinal defect differentiated a localized loss of function from a degeneration involving the entire retina.

Original language	English
Pages (from-to)	27-31
Number of pages	5
Journal	American Journal of Ophthalmology
Volume	83
Issue number	1
DOIs	https://doi.org/10.1016/0002-9394(77)90187-8
State	Published - Jan 1977
Externally published	Yes

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title = "Macular colobomas in Leber's congenital amaurosis",

abstract = "Two siblings with Leber's congenital amaurosis had the unusual association of bilateral macular colobomas. In addition to the colobomas, the patients also had deafmutism, severe myopia, large corneas, and an unusual discrete area of peripapillary tapetoretinal sheen. Electrodiagnostic evaluation of patients with congenitally poor visual acuity and a central retinal defect differentiated a localized loss of function from a degeneration involving the entire retina.",

author = "Sheila Margolis and Scher, {Barry M.} and Carr, {Ronald E.}",

note = "Funding Information: From the New York University Medical Center, Department of Ophthalmology, New York, New York. This study was supported in part by grant EY 00213 from the National Eye Institute.",

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AU - Scher, Barry M.

AU - Carr, Ronald E.

N1 - Funding Information: From the New York University Medical Center, Department of Ophthalmology, New York, New York. This study was supported in part by grant EY 00213 from the National Eye Institute.

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N2 - Two siblings with Leber's congenital amaurosis had the unusual association of bilateral macular colobomas. In addition to the colobomas, the patients also had deafmutism, severe myopia, large corneas, and an unusual discrete area of peripapillary tapetoretinal sheen. Electrodiagnostic evaluation of patients with congenitally poor visual acuity and a central retinal defect differentiated a localized loss of function from a degeneration involving the entire retina.

AB - Two siblings with Leber's congenital amaurosis had the unusual association of bilateral macular colobomas. In addition to the colobomas, the patients also had deafmutism, severe myopia, large corneas, and an unusual discrete area of peripapillary tapetoretinal sheen. Electrodiagnostic evaluation of patients with congenitally poor visual acuity and a central retinal defect differentiated a localized loss of function from a degeneration involving the entire retina.

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Macular colobomas in Leber's congenital amaurosis

Abstract

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