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
09/13/2013Pubmed ID
24024747Pubmed Central ID
PMC4092044DOI
10.3109/13816810.2013.835432Scopus ID
2-s2.0-84922924329 (requires institutional sign-in at Scopus site) 5 CitationsAbstract
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 EVAuthor
Elena V. Semina PhD Chief, Professor in the Ophthalmology and Visual Sciences department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Abnormalities, MultipleChromosome Deletion
Chromosomes, Human, Pair 22
Corneal Diseases
DiGeorge Syndrome
Humans
Male
Microphthalmos