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A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1. Ophthalmic Genet 2015 Mar;36(1):92-4

Date

09/13/2013

Pubmed ID

24024747

Pubmed Central ID

PMC4092044

DOI

10.3109/13816810.2013.835432

Scopus ID

2-s2.0-84922924329 (requires institutional sign-in at Scopus site)   4 Citations

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).

Author List

Reis LM, Tyler RC, Zori R, Burgess J, Mueller J, Semina EV

Author

Elena V. Semina PhD Chief, Professor in the Ophthalmology and Visual Sciences department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Abnormalities, Multiple
Chromosome Deletion
Chromosomes, Human, Pair 22
Corneal Diseases
DiGeorge Syndrome
Humans
Male
Microphthalmos