Traboulsi综合征是一种非常罕见的,在年轻时可能威胁视力的外翻综合征形式。它的特点是典型的面部,骨骼和眼部体征。
两个兄弟姐妹,亲生父母,具有与Traboulsi综合征一致的临床表型,接受了广泛的眼科成像和基于外显子组的基因检测。两者均通过角膜缘方法进行单侧透明晶状体摘除治疗。
两个兄弟姐妹,一男一女,表现为与Traboulsi综合征一致的系统和眼部特征。所有4只污损的眼睛都存在晶状体半脱位,在一只眼睛中检测到自发的结膜下气泡形成。这只眼睛也显示出圆锥角膜相关的角膜变薄的证据。在分子上证实了Traboulsi综合征的临床诊断。纯合子,小说,在ASPH基因的外显子25中鉴定出致病性无义变体:c.2181_2183dup,p.(Val727_Trp728insTer)。在清晰的摘除镜片和术后刚性透气性隐形眼镜后,获得了出色的视觉效果。
我们用ASPH基因中的一个新的移码变体扩展了Traboulsi综合征的遗传谱。我们表明,在Traboulsi综合征中,晶状体切除术和透气性隐形眼镜是治疗晶状体半脱位的有效方法。然而,终身随访对于避免(晚期)术后并发症至关重要.
Traboulsi syndrome is a very rare, syndromic form of ectopia lentis that is potentially sight-threatening at a young age. It is characterized by typical facial, skeletal and ocular signs.
Two siblings, born to consanguineous parents, with a clinical phenotype consistent with Traboulsi syndrome, underwent extensive ophthalmic imaging and exome-based genetic testing. Both were treated with unilateral clear lens extraction via a limbal approach.
Two siblings, one male and one female, presented with systemic and ocular features consistent with Traboulsi syndrome. Lens subluxation was present in all 4fouraffected eyes, and spontaneous subconjunctival bleb formation was detected in one eye. This eye also showed evidence of keratoconus-related corneal thinning. The clinical diagnosis of Traboulsi syndrome was confirmed molecularly. A homozygous, novel, pathogenic nonsense variant was identified in exon 25 of the ASPH gene: c.2181_2183dup, p.(Val727_Trp728insTer). Excellent visual outcomes following clear lens extraction and postoperative rigid gas-permeable contact lens fitting were obtained.
We expanded the genetic spectrum of Traboulsi syndrome with a novel frameshift variant in the ASPH gene. We showed that lensectomy followed by gas-permeable contact lenses is an efficient therapeutic approach to treat lens subluxation in Traboulsi syndrome. However, lifelong follow-up is crucial to avoid (late) postoperative complications.