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Abstract #54705 Published in IGR 15-3
A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1
Reis LM; Tyler RC; Zori R; Burgess J; Mueller J; Semina EVOphthalmic Genetics 2015; 36: 92-94
We read with interest the recent publication by Tarlan and colleagues 1 describing a patient with 22q11.2 deletion syndrome and ocular features of right microphthalmia and left anterior segment dysgenesis. While anterior segment dysgenesis disorders are occasionally reported with 22q11.2 deletions, 2-5 this remains a rare association. We report here an 8-year-old patient with 22q11.2 deletion syndrome and bilateral Peters anomaly with congenital glaucoma; in addition, our patient was found to have a single heterozygous mutation in CYP1B1, c.83C > T, p.(Ser28Trp).
Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin , Milwaukee, WI , USA .
Full articleClassification:
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
