Article
Ocular findings of incontinentia pigmenti in a male infant with Klinefelter syndrome.
Journal of pediatric ophthalmology and strabismus - 1 Jan 2000
Fowell S M, Greenwald M J, Prendiville J S, Jampol L M
Abstract excerpt
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...
Topics
- Fluorescein Angiography
- Fundus Oculi
- Genotype
- Humans
- Incontinentia Pigmenti
- Infant
- Klinefelter Syndrome
- Male
- Retinal Diseases