Familial Exudative Vitreoretinopathy and DiGeorge Syndrome: A New Locus for Familial Exudative Vitreoretinopathy on Chromosome 22q11.2?
Presented in part at: Association for Research in Vision and Ophthalmology Annual Meeting, May 2008, Fort Lauderdale, Florida.
Received 11 November 2008; received in revised form 27 January 2009; accepted 26 February 2009. published online 05 June 2009.
Purpose
To describe a patient with DiGeorge syndrome in association with familial exudative vitreoretinopathy (FEVR).
Design
Observational case report.
Participants
A newborn female and her parents.
Methods
Family members were examined by slit-lamp biomicroscopy and indirect ophthalmoscopy. Deletion mapping was performed by fluorescent in situ hybridization and genotyping. Mutation screening was undertaken by direct sequencing.
Main Outcome Measures
The presence or absence of a microdeletion on chromosome 22q11.2 in the patient and her parents and mutation screening of FZD4 and LRP5 in the patient.
Results
The patient had classical features of DiGeorge syndrome and FEVR. A de novo microdeletion on chromosome 22q11.2 was found in the patient, confirming the diagnosis of DiGeorge syndrome. No mutations were identified in the known FEVR genes.
Conclusions
Patients with DiGeorge syndrome should have a dilated retinal examination to look for signs of FEVR. Chromosome 22q11.2 may represent a novel locus for FEVR.
Financial Disclosure(s)
The author(s) have no proprietary or commercial interest in any materials discussed in this article.
Available online: June 5, 2009.
1Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom
2Department of Clinical Genetics, St James's University Hospital, Leeds, United Kingdom
3Department of Ophthalmology, St James's University Hospital, Leeds, United Kingdom
4Department of Ophthalmology, Bradford Royal Infirmary, Bradford, United Kingdom
Correspondence: Carmel Toomes, PhD, Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, St James's University Hospital, Beckett Street, Leeds LS9 7TF, United Kingdom
Manuscript no. 2008-1335.
Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.
Funded by The Wellcome Trust and The Royal Society, London, UK.
ABSTRACT