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 language | English (US) |
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Pages (from-to) | E88-E90 |
Journal | Ophthalmic plastic and reconstructive surgery |
Volume | 34 |
Issue number | 3 |
DOIs | |
State | Published - Jun 1 2018 |
Externally published | Yes |
ASJC Scopus subject areas
- Surgery
- Ophthalmology