A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1.

[22q11.2 deletion syndrome]

Abstract We read with interest the recent publication by Tarlan and colleagues 1 describing a patient with 22 q 11 .2 deletion syndrome and ocular features of right microphthalmia and left anterior segment dysgenesis . While anterior segment dysgenesis disorders are occasionally reported with 22 q 11 .2 deletions , 2 -5 this remains a rare association . We report here an 8 -year -old patient with 22 q 11 .2 deletion syndrome and bilateral Peters anomaly with congenital glaucoma ; in addition , our patient was found to have a single heterozygous mutation in CYP 1 B 1 , c .83 C > T , p .(Ser 28 Trp ).