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Ophthalmic Genet. 2015 Mar;36(1):92-4. doi: 10.3109/13816810.2013.835432. Epub 2013 Sep 11.

A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1.

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  • 1Department of Pediatrics and Children's Research Institute at the Medical College of Wisconsin and Children's Hospital of Wisconsin , Milwaukee, WI , USA .

Abstract

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).

KEYWORDS:

22q11.2 deletion syndrome; CYP1B1; congenital glaucoma; peters anomaly

PMID:
24024747
[PubMed - indexed for MEDLINE]
PMCID:
PMC4092044
Free PMC Article
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