Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?
OBJECTIVE
To describe a patient with DiGeorge syndrome in association with familial exudative vitreoretinopathy (FEVR).


METHODS
Observational case report.


METHODS
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.


METHODS
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.
Gilmour
David F
DF
Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK.
Downey
Louise M
LM
Sheridan
Eamonn
E
Long
Vernon
V
Bradbury
John
J
Inglehearn
Chris F
CF
Toomes
Carmel
C
D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004252:DNA Mutational Analysis; D004062:DiGeorge Syndrome / Q000175:diagnosis / Q000235:genetics*; D005122:Exudates and Transudates; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D051157:Frizzled Receptors / Q000235:genetics; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D026502:LDL-Receptor Related Proteins / Q000235:genetics; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D008853:Microscopy; D009887:Ophthalmoscopy; D043562:Receptors, G-Protein-Coupled / Q000235:genetics; D015861:Retinal Neovascularization / Q000175:diagnosis / Q000235:genetics*; D014822:Vitreous Body
C402930:FZD4 protein, human; D051157:Frizzled Receptors; D026502:LDL-Receptor Related Proteins; C555482:LRP5 protein, human; D060492:Low Density Lipoprotein Receptor-Related Protein-5; D043562:Receptors, G-Protein-Coupled