title: Ocular findings of incontinentia pigmenti in a male infant with Klinefelter syndrome.
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.
authors.affiliation: Department of Ophthalmology, Northwestern University Medical School, Chicago, Ill.
authors.forename: S M
authors.initials: SM
authors.lastname: Fowell
authors.forename: M J
authors.initials: MJ
authors.lastname: Greenwald
authors.forename: J S
authors.initials: JS
authors.lastname: Prendiville
authors.forename: L M
authors.initials: LM
authors.lastname: Jampol
mesh_terms: D005451:Fluorescein Angiography; D005654:Fundus Oculi; D005838:Genotype; D006801:Humans; D007184:Incontinentia Pigmenti / Q000150:complications*; D007223:Infant; D007713:Klinefelter Syndrome / Q000150:complications*; D008297:Male; D012164:Retinal Diseases / Q000150:complications*