Hereditary microphthalmia with colobomatous cyst

Y. Porges; R. Gershoni-Baruch; R. Leibu; D. Goldscher; S. Zonis; I. Shapira; B. Miller

doi:10.1016/S0002-9394(14)77409-4

Hereditary microphthalmia with colobomatous cyst

Y. Porges, R. Gershoni-Baruch, R. Leibu, D. Goldscher, S. Zonis, I. Shapira, B. Miller

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

Abstract

We examined five members of a highly inbred kinship who had isolated microphthalmia associated with colobomatous cysts and various other ocular lesions. They were all offspring of consanguineous (first cousins) and unaffected parents. Microphthalmia in this kindred was transmitted as an autosomal recessive trait. Ultrasonography was effective for prenatal diagnosis in two pregnancies at risk.

Original language	English
Pages (from-to)	30-34
Number of pages	5
Journal	American Journal of Ophthalmology
Volume	114
Issue number	1
DOIs	https://doi.org/10.1016/S0002-9394(14)77409-4
State	Published - 1992
Externally published	Yes

ASJC Scopus subject areas

Ophthalmology

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10.1016/S0002-9394(14)77409-4

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title = "Hereditary microphthalmia with colobomatous cyst",

abstract = "We examined five members of a highly inbred kinship who had isolated microphthalmia associated with colobomatous cysts and various other ocular lesions. They were all offspring of consanguineous (first cousins) and unaffected parents. Microphthalmia in this kindred was transmitted as an autosomal recessive trait. Ultrasonography was effective for prenatal diagnosis in two pregnancies at risk.",

author = "Y. Porges and R. Gershoni-Baruch and R. Leibu and D. Goldscher and S. Zonis and I. Shapira and B. Miller",

year = "1992",

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AU - Porges, Y.

AU - Gershoni-Baruch, R.

AU - Leibu, R.

AU - Goldscher, D.

AU - Zonis, S.

AU - Shapira, I.

AU - Miller, B.

PY - 1992

Y1 - 1992

N2 - We examined five members of a highly inbred kinship who had isolated microphthalmia associated with colobomatous cysts and various other ocular lesions. They were all offspring of consanguineous (first cousins) and unaffected parents. Microphthalmia in this kindred was transmitted as an autosomal recessive trait. Ultrasonography was effective for prenatal diagnosis in two pregnancies at risk.

AB - We examined five members of a highly inbred kinship who had isolated microphthalmia associated with colobomatous cysts and various other ocular lesions. They were all offspring of consanguineous (first cousins) and unaffected parents. Microphthalmia in this kindred was transmitted as an autosomal recessive trait. Ultrasonography was effective for prenatal diagnosis in two pregnancies at risk.

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U2 - 10.1016/S0002-9394(14)77409-4

DO - 10.1016/S0002-9394(14)77409-4

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AN - SCOPUS:0026648383

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JO - American Journal of Ophthalmology

JF - American Journal of Ophthalmology

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Hereditary microphthalmia with colobomatous cyst

Abstract

ASJC Scopus subject areas

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