Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?
Ophthalmology
; 116(8): 1522-4, 2009 Aug.
Article
em En
| MEDLINE
| ID: mdl-19501404
ABSTRACT
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 OUTCOMEMEASURES:
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Corpo Vítreo
/
Cromossomos Humanos Par 22
/
Neovascularização Retiniana
/
Síndrome de DiGeorge
/
Oftalmopatias
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Newborn
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article