PDF(Pubmed)
Abstract：
Marfan\'s syndrome (MFS) is an autosomal dominant connective tissue disorder with defect in the fibrillin-1 gene. The most common ocular manifestation is subluxated lens in the superotemporal direction, accounting for 50%-85% of total cases. The association of lens coloboma with MFS has been described in literature, but the coexistence of lens coloboma with ectopia lentis is a rare feature. Here, we describe three cases of MFS including a case of bilateral lens coloboma with ectopia lentis: case 1 - a 39-year-old male with inferotemporal lens subluxation in the right eye and superotemporal lens subluxation in the left eye with open-angle glaucoma and high myopia, case 2 - a 15-year-old child with bilateral superonasal lens subluxation with lens coloboma, and case 3 - a 56-year-old female with bilateral lens coloboma. Case 1 and case 2 had clear lenses with good refractive correction; hence, they were optically rehabilitated with contact lenses, whereas case 3 was advised for cataract surgery. It is important to distinguish the lens coloboma from a more common entity, ectopia lentis as former usually remains stable while the latter might need a surgical intervention.
摘要：
马凡氏综合征（MFS）是一种常染色体显性遗传性结缔组织疾病，具有原纤维蛋白1基因缺陷。最常见的眼部表现是超颞叶方向的晶状体半脱位，占总病例的50%-85%。文献中已经描述了晶状体缺损与MFS的关联，但是晶状体缺损与扁桃体异位并存是一个罕见的特征。这里,我们描述了3例MFS，包括1例双侧晶状体缺损伴外翻：病例1-39岁男性，右眼下颞叶晶状体半脱位，左眼超颞叶晶状体半脱位伴开角型青光眼和高度近视，病例2-15岁儿童双侧鼻上晶状体半脱位伴晶状体缺损，病例3-一名56岁女性，双侧晶状体缺损。案例1和案例2具有清晰的镜片，具有良好的屈光矫正；因此，他们用隐形眼镜进行了光学修复，而病例3被建议进行白内障手术。区分晶状体缺损和更常见的实体是很重要的，扁桃体作为前者通常保持稳定，而后者可能需要手术干预。
