Traboulsi syndrome is an extremely rare ophthalmological disorder characterised by facial dysmorphism, lens dislocation, anterior segment abnormalities and spontaneous filtering blebs. It is caused by pathogenic variants in the ASPH gene. To date, only 13 individuals with Traboulsi syndrome from three families have been reported in the literature. We report the first UK family with Traboulsi syndrome associated with two novel ASPH variants. This condition, which has some phenotypic overlap with both Marfan syndrome and homocystinuria, is most likely under ascertained, and we further delineate the clinical features to aid its recognition.

中文翻译：

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由ASPH突变引起的Traboulsi综合征：尚未得到充分认识的轻度外翻原因。

Traboulsi综合征是一种极为罕见的眼科疾病，其特征是面部畸形，晶状体脱位，前节异常和自发滤过泡。它是由ASPH基因的致病变异引起的。迄今为止，文献中仅报道了来自三个家庭的13名患有Traboulsi综合征的人。我们报告了英国第一个患有Traboulsi综合征的家庭，该家族与两种新颖的ASPH变体相关。这种病与马凡氏综合征和高半胱氨酸尿症在表型上有重叠，很可能已经确定，我们将进一步描述其临床特征以帮助其识别。