Ophthalmology · 2009
Familial exudative vitreoretinopathy and DiGeorge syndrome: a new locus for familial exudative vitreoretinopathy on chromosome 22q11.2?
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Gilmour David F, Downey Louise M, Sheridan Eamonn, Long Vernon, Bradbury John, Inglehearn Chris F, Toomes Carmel
Аннотация
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.
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.
Предметные рубрики MeSH
Abnormalities, MultipleChromosome DeletionChromosomes, Human, Pair 22DNA Mutational AnalysisDiGeorge SyndromeExudates and TransudatesEye DiseasesFemaleFrizzled ReceptorsGenotypeHumansIn Situ Hybridization, FluorescenceInfant, NewbornLDL-Receptor Related ProteinsLow Density Lipoprotein Receptor-Related Protein-5MicroscopyOphthalmoscopyReceptors, G-Protein-CoupledRetinal NeovascularizationVitreous Body