Falciform Macular Folds and Chromosome 22q11.2: Evidence in Support of a Locus for Familial Exudative Vitreoretinopathy (FEVR)

Background: Familial exudative vitreoretinopathy (FEVR) is a genetic disease caused by abnormal retinal vascular development. New additional genetic loci for FEVR have recently been identified. Microduplication of 22q11.2 has been reported with a heterogeneous phenotype and microdeletion of 22q11.2 has been associated with FEVR. We describe a case of a girl with microduplication of 22q11.2 and falciform macular folds. Materials and Methods: The infant and first-degree relatives were examined. A dilated fundus examination was performed. Genetic screening was done by chromosomal microarray analysis and confirmed by fluorescent in situ hybridization (FISH). Results: Bilateral macular folds were found with temporal fibrosis in the proband. A chromosomal microarray revealed a 2.21 Mb microduplication of the 22q11.2 region. Conclusion: This is the first report to associate microduplication of 22q11.2 with macular folds, supporting the potential for a FEVR locus on chromosome 22q11.2. We encourage full ophthalmological examination for patients with microduplication of 22q11.2 to identify ocular associations.