RT Journal Article
SR Electronic
T1 Imaging Findings of Congenital Glaucoma in Opitz Syndrome
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1003
OP 1005
DO 10.3174/ajnr.A1020
VO 29
IS 5
A1 A.K. Choudhary
A1 B. Jha
YR 2008
UL http://www.ajnr.org/content/29/5/1003.abstract
AB SUMMARY: Opitz syndrome is a rare autosomal recessive disorder of cholesterol metabolism associated with mental retardation and multiple congenital malformations. It is also uncommonly associated with congenital glaucoma. We describe the orbital findings on CT in this rare case of a patient with Opitz syndrome who presented with congenital glaucoma, with a review of the literature. The CT findings of congenital glaucoma, which have not been described before in the literature, are also discussed. It is important for the radiologist to be aware of this rare association. It is also important to be aware of the findings of congenital glaucoma on CT because patients with Opitz syndrome and other syndromes associated with learning difficulties may not present with typical clinical features of glaucoma. A high index of suspicion will lead to a correct diagnosis and earlier intervention.