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

Research output: Contribution to journalArticlepeer-review

17 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 languageEnglish (US)
Pages (from-to)180-184
Number of pages5
JournalJournal of Pediatric Ophthalmology and Strabismus
Volume29
Issue number3
StatePublished - Jan 1 1992

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

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