Colobomas of the Iris and Choroid and High Signal Intensity Cerebral Foci on T2-Weighted Magnetic Resonance Images in Klinefelter's Syndrome

Publisher Website
Google Scholar
Abstract
Journal of Pediatric Ophthalmology and Strabismus | A 5-year-old boy presented with ocular anomalies including microphthalmos, colobomas of the iris, choroid, and optic nerve head, and strabismus. Magnetic resonance imaging of the head showed multiple bilateral asymmetric high signal intensity foci in the subcortical and periventricular white matter. Genetic counseling disclosed a 47,XXY karyotype. J Pediatr Ophthalmol Strabismus