Ocular anomalies in an infant with Klinefelter Syndrome

Abstract

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. Here we present a 2-month-old infant with Klinefelter syndrome and a unique combination of ocular abnormalities including microphthalmia, cataracts, and malformed pupils.

KEYWORDS::

• Klinefelter syndrome
• microphthalmia
• iris dysgenesis
• BCOR
• AP-2a

ACKNOWLEDGMENTS

We would like to thank our Research Assistant, Rizwan Alvi, for his assistance in the preparation of this manuscript.

Financial support: This study was supported in part by The Foederer Fund.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.