Uveal colobomata and Klinefelter syndrome.

Most multiple congenital abnormality syndromes associated with uveal colobomata have their origins dating from before intrauterine development. Causative genetic and chromosomal influences were reviewed (James, Karseras, and Wybar, 1974), but associated abnornalities of the sex chromosomes were not observed in their series and are a rare occurrence in the literature. It is of interest therefore to record uveal colobomata occurring in a patient with Klinefelter syndrome and to discuss the possible implications. This association has not been recorded in Britain previously.