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)|
|Number of pages||5|
|Journal||Journal of Pediatric Ophthalmology and Strabismus|
|State||Published - Jan 1 1992|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health