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.