Ocular findings of incontinentia pigmenti in a male infant with Klinefelter syndrome

S. M. Fowell; M. J. Greenwald; J. S. Prendiville; Lee Merrill Jampol

Ocular findings of incontinentia pigmenti in a male infant with Klinefelter syndrome

S. M. Fowell, M. J. Greenwald^*, J. S. Prendiville, Lee Merrill Jampol

^*Corresponding author for this work

Ophthalmology

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

20 Scopus citations

Abstract

A male infant with Klinefelter karyotype (47, XXY) manifested both the typical dermatologic findings of the X-linked dominant disorder incontinentia pigmenti (Bloch-Sulzberger syndrome) and ocular findings including retinal pigmentary changes, peripheral retinal avascularity, and preretinal fibrovascular proliferation. To our knowledge, this is the first reported case of incontinentia pigmenti with this specific abnormal genotype manifesting ocular findings.

Original language	English (US)
Pages (from-to)	180-184
Number of pages	5
Journal	Journal of Pediatric Ophthalmology and Strabismus
Volume	29
Issue number	3
State	Published - Jan 1 1992

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Ophthalmology

Cite this

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abstract = "A male infant with Klinefelter karyotype (47, XXY) manifested both the typical dermatologic findings of the X-linked dominant disorder incontinentia pigmenti (Bloch-Sulzberger syndrome) and ocular findings including retinal pigmentary changes, peripheral retinal avascularity, and preretinal fibrovascular proliferation. To our knowledge, this is the first reported case of incontinentia pigmenti with this specific abnormal genotype manifesting ocular findings.",

author = "Fowell, {S. M.} and Greenwald, {M. J.} and Prendiville, {J. S.} and Jampol, {Lee Merrill}",

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AU - Prendiville, J. S.

AU - Jampol, Lee Merrill

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N2 - A male infant with Klinefelter karyotype (47, XXY) manifested both the typical dermatologic findings of the X-linked dominant disorder incontinentia pigmenti (Bloch-Sulzberger syndrome) and ocular findings including retinal pigmentary changes, peripheral retinal avascularity, and preretinal fibrovascular proliferation. To our knowledge, this is the first reported case of incontinentia pigmenti with this specific abnormal genotype manifesting ocular findings.

AB - A male infant with Klinefelter karyotype (47, XXY) manifested both the typical dermatologic findings of the X-linked dominant disorder incontinentia pigmenti (Bloch-Sulzberger syndrome) and ocular findings including retinal pigmentary changes, peripheral retinal avascularity, and preretinal fibrovascular proliferation. To our knowledge, this is the first reported case of incontinentia pigmenti with this specific abnormal genotype manifesting ocular findings.

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Ocular findings of incontinentia pigmenti in a male infant with Klinefelter syndrome

Abstract

ASJC Scopus subject areas

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