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.