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

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. Accepted for publication November 5, 2017. Research to Prevent Blindness unrestricted departmental award (Vanderbilt University Medical Center, Department of Ophthalmology & Visual Sciences). The authors have no conflicts of interest to disclose. Address Correspondence and reprint requests to: Louise A. Mawn, M.D., F.A.C.S., Department of Ophthalmology and Visual Sciences, Vanderbilt Eye Institute, 2311 Pierce Avenue, Nashville, TN 37232. E-mail: louise.a.mawn@vanderbilt.edu © 2018 by The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc., All rights reserved.