De Niear Matthew A, Breazzano Mark P, Mawn Louise A
Medical Scientist Training Program.
Department of Ophthalmology and Visual Sciences, Vanderbilt Eye Institute.
Ophthalmic Plast Reconstr Surg. 2018 May/Jun;34(3):e88-e90. doi: 10.1097/IOP.0000000000001079.
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.
一名4岁男孩因双眼上下眼睑双行睫前来就诊，这种情况至少从1岁起就已出现。该患者的家族病史值得注意，因为双行睫和淋巴水肿影响了众多家庭成员。发现该患者在FOXC2基因中有一个新的杂合变异（c.741_742insGG）。FOXC2基因突变与淋巴水肿-双行睫综合征相关。淋巴水肿-双行睫综合征的一个重要特征是双行睫通常在淋巴水肿发作之前就已出现。
