Ocular anomalies in an infant with Klinefelter Syndrome.

Klinefelter syndrome is caused by the presence of one or more additional X chromosomes in an affected male. Patients often exhibit gynecomastia, small testes, and infertility. Though the characteristics of Klinefelter have been well-documented, associated ocular abnormalities have been only occasionally reported.

Ocular findings in lissencephaly.

Purpose: To report our retrospective study of 20 cases with lissencephaly and describe ocular and visual abnormalities associated with this disorder.

Methods: Patients with lissencephaly were identified and classified into classic (type I) or cobblestone (type 2) lissencephaly on the basis of a review of clinical records and neuroimaging studies. Only patients examined by an ophthalmologist were included in the study.