PMID- 18324686
OWN - NLM
STAT- MEDLINE
DCOM- 20080808
LR  - 20231105
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 146A
IP  - 7
DP  - 2008 Apr 1
TI  - Sclerocornea associated with the chromosome 22q11.2 deletion syndrome.
PG  - 904-9
LID - 10.1002/ajmg.a.32156 [doi]
AB  - Reported ocular findings in the 22q11.2 deletion syndrome (which encompasses the 
      phenotypes of DiGeorge, velocardiofacial, and Takao (conotruncal-anomaly-face) 
      syndromes) have included posterior embryotoxon (prominent, anteriorly displaced 
      Schwalbe's line at the corneal limbus or edge), retinal vascular tortuosity, 
      eyelid hooding, strabismus, and astigmatism. We present seven 22q11.2 patients 
      from multiple centers with sclerocornea, an eye finding previously unreported in 
      the literature. Four boys and three girls were identified with sclerocornea, 
      systemic DGS/VCFS findings, and fluorescence in situ hybridization 
      (FISH)-confirmed microdeletion at chromosome 22q11.2. FISH diagnosis was 
      perinatal in six patients but at 2 years of age in one child. Sclerocornea was 
      bilateral in five patients. Findings included descemetocele (five eyes), 
      microophthalmos (one eye), iridocorneal adhesions (one bilateral case), and 
      severe anterior segment dysgenesis (one eye). Two patients underwent bilateral 
      corneal transplantation; another two were scheduled for possible unilateral 
      transplant. Sclerocornea is a static congenital condition in which the cornea is 
      opaque and vascularized and resembles the sclera. The novel finding of 
      sclerocornea suggests that a genetic locus at 22q11.2 may be involved in anterior 
      segment embryogenesis. In most of our patients, the diagnostic process was 
      underway, but in one patient 22q11.2 deletion was not suspected until after the 
      child had already been undergoing treatment for sclerocornea for 2 years. 
      Sclerocornea should be added to the clinical manifestations of the 22q11.2 
      deletion syndrome. Ophthalmologists diagnosing sclerocornea in children with 
      systemic findings suggestive of 22q11.2 deletion should ensure appropriate 
      genetic referral.
CI  - Copyright 2008 Wiley-Liss, Inc.
FAU - Binenbaum, Gil
AU  - Binenbaum G
AD  - Department of Pediatric Ophthalmology, Children's Hospital of Philadelphia, 
      Philadelphia, Pennsylvania 19104, USA.
FAU - McDonald-McGinn, Donna M
AU  - McDonald-McGinn DM
FAU - Zackai, Elaine H
AU  - Zackai EH
FAU - Walker, B Michael
AU  - Walker BM
FAU - Coleman, Karlene
AU  - Coleman K
FAU - Mach, Amy M
AU  - Mach AM
FAU - Adam, Margaret
AU  - Adam M
FAU - Manning, Melanie
AU  - Manning M
FAU - Alcorn, Deborah M
AU  - Alcorn DM
FAU - Zabel, Carrie
AU  - Zabel C
FAU - Anderson, Dennis R
AU  - Anderson DR
FAU - Forbes, Brian J
AU  - Forbes BJ
LA  - eng
GR  - L30 EY018451/EY/NEI NIH HHS/United States
GR  - L30 EY018451-02/EY/NEI NIH HHS/United States
GR  - R01 HL084410/HL/NHLBI NIH HHS/United States
GR  - R01 HL084410-03/HL/NHLBI NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - Corneal Diseases/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Syndrome
PMC - PMC2831198
MID - NIHMS164253
EDAT- 2008/03/08 09:00
MHDA- 2008/08/09 09:00
PMCR- 2010/03/03
CRDT- 2008/03/08 09:00
PHST- 2008/03/08 09:00 [pubmed]
PHST- 2008/08/09 09:00 [medline]
PHST- 2008/03/08 09:00 [entrez]
PHST- 2010/03/03 00:00 [pmc-release]
AID - 10.1002/ajmg.a.32156 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2008 Apr 1;146A(7):904-9. doi: 10.1002/ajmg.a.32156.