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

被引：3

作者：

De Niear, Matthew A. ^{[1
]}

Breazzano, Mark P. ^{[2
]}

Mawn, Louise A. ^{[2
,3
]}

机构：

[1] Vanderbilt Univ, Med Ctr, Med Scientist Training Program, Nashville, TN USA

[2] Vanderbilt Univ, Med Ctr, Vanderbilt Eye Inst, Dept Ophthalmol & Visual Sci, Nashville, TN USA

[3] Vanderbilt Univ, Med Ctr, Dept Neurol Surg, Nashville, TN USA

来源：

OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY | 2018年 / 34卷 / 03期

关键词：

D O I：

10.1097/IOP.0000000000001079

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

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.

引用

页码：E88 / E90

页数：4

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