Familial Exudative Vitreoretinopathy and DiGeorge Syndrome: A New Locus for Familial Exudative Vitreoretinopathy on Chromosome 22q11.2?

• Published in: Ophthalmology (Rochester, Minn.) Vol. 116; no. 8; pp. 1522 - 1524
• Main Authors: GILMOUR, David F, DOWNEY, Louise M, SHERIDAN, Eamonn, LONG, Vernon, BRADBURY, John, INGLEHEARN, Chris F, TOOMES, Carmel
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier 01.08.2009
• Subjects: Abnormalities, Multiple - genetics; Biological and medical sciences; Chromosome Deletion; Chromosomes, Human, Pair 22 - genetics; DiGeorge Syndrome - diagnosis; DiGeorge Syndrome - genetics; DNA Mutational Analysis; Exudates and Transudates; Eye Diseases - diagnosis; Eye Diseases - genetics; Female; Frizzled Receptors - genetics; Genotype; Humans; In Situ Hybridization, Fluorescence; Infant, Newborn; LDL-Receptor Related Proteins - genetics; Low Density Lipoprotein Receptor-Related Protein-5; Medical sciences; Microscopy; Miscellaneous; Ophthalmology; Ophthalmoscopy; Receptors, G-Protein-Coupled - genetics; Retinal Neovascularization - diagnosis; Retinal Neovascularization - genetics; Retinopathies; Vitreous Body; Vitreous body diseases; Vitreous body disease; Eye disease; Retinopathy; Chromosome; Di George's syndrome; Ophthalmology; Locus; Familial exsudative vitreoretinopathy; Genetic disease
• ISSN: 0161-6420; 1549-4713
• DOI: 10.1016/j.ophtha.2009.02.032

To describe a patient with DiGeorge syndrome in association with familial exudative vitreoretinopathy (FEVR). Observational case report. A newborn female and her parents. 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. 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. 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. 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.