Dhiman Richa, Kaur Lovepreet, Sharma Nancy, Pandey Mohan Lal
Department of Ophthalmology, Government Medical College, Chandigarh, India.
Department of Ophthalmology, Maharishi Markandeshwar Institute of Medical Sciences and Research, Ambala, Haryana, India.
Oman J Ophthalmol. 2023 Jun 27;16(2):310-313. doi: 10.4103/ojo.ojo_108_22. eCollection 2023 May-Aug.
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.
马凡综合征（MFS）是一种常染色体显性遗传性结缔组织疾病，由原纤维蛋白-1基因缺陷引起。最常见的眼部表现是晶状体向上颞侧半脱位，占所有病例的50%-85%。文献中已描述晶状体缺损与马凡综合征的关联，但晶状体缺损与晶状体异位并存是一种罕见特征。在此，我们报告3例马凡综合征病例，其中1例为双侧晶状体缺损伴晶状体异位：病例1为一名39岁男性，右眼晶状体向下颞侧半脱位，左眼晶状体向上颞侧半脱位，合并开角型青光眼和高度近视；病例2为一名15岁儿童，双侧晶状体向上鼻侧半脱位伴晶状体缺损；病例3为一名56岁女性，双侧晶状体缺损。病例1和病例2晶状体透明，屈光矫正良好，因此采用隐形眼镜进行光学矫正，而病例3建议行白内障手术。将晶状体缺损与更常见的晶状体异位区分开来很重要，因为前者通常保持稳定，而后者可能需要手术干预。
