Novel FOXC2 Mutation and Distichiasis in a Patient With Lymphedema-Distichiasis Syndrome

Matthew A. De Niear, Mark P. Breazzano, Louise A. Mawn

Research output: Contribution to journalArticlepeer-review

Abstract

A 4 year-old-boy was referred for distichiasis of the upper and lower lids of both eyes that had been present since at least 1 year of age. The patient's family history was notable for distichiasis and lymphedema affecting numerous family members. The patient was found to have a novel heterozygous variant (c.741_742insGG) in the FOXC2 gene. Mutations in the FOXC2 gene are associated with lymphedema-distichiasis syndrome. An important feature of lymphedema-distichiasis syndrome is that distichiasis is typically present prior to the onset of lymphedema.

Original languageEnglish (US)
Pages (from-to)e88-e90
JournalOphthalmic plastic and reconstructive surgery
Volume34
Issue number3
DOIs
StatePublished - May 1 2018
Externally publishedYes

ASJC Scopus subject areas

  • Surgery
  • Ophthalmology

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