title: Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?
abstract: 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.
authors.affiliation: Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, UK.
authors.forename: David F
authors.initials: DF
authors.lastname: Gilmour
authors.forename: Louise M
authors.initials: LM
authors.lastname: Downey
authors.forename: Eamonn
authors.initials: E
authors.lastname: Sheridan
authors.forename: Vernon
authors.initials: V
authors.lastname: Long
authors.forename: John
authors.initials: J
authors.lastname: Bradbury
authors.forename: Chris F
authors.initials: CF
authors.lastname: Inglehearn
authors.forename: Carmel
authors.initials: C
authors.lastname: Toomes
mesh_terms: 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
chemical_list: 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