Falciform macular folds and chromosome 22q11.2: Evidence in support of a locus for familial exudative vitreoretinopathy (FEVR)

Jarel K. Gandhi, Travis Tate Tollefson, David G. Telander

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

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 2.21Mb 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.

Original languageEnglish (US)
Pages (from-to)112-116
Number of pages5
JournalOphthalmic Genetics
Volume35
Issue number2
DOIs
StatePublished - 2014

Keywords

  • Falciform retinal folds
  • Familial exudative vitreoretinopathy (FEVR)
  • Microduplication 22q11.2

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

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