马凡综合征合并双眼晶体不全脱位一例并文献复习

A Case of Marfan Syndrome Complicated with Bilateral Ectopia Lentis and Literature Review

摘要: 目的：报道1例马凡综合征(Marfan Syndrome, MFS)的临床特点、诊断及治疗策略，分析该病的发生机制、诊断要点和预后。方法：报告1例6岁男童因“查体发现右眼视力差1年”就诊，经检查确诊为“马凡综合征”及“晶状体不全脱位双眼”，行“双眼前入路玻璃体切割 + 白内障超声乳化 + 囊袋张力环植入 + 人工晶体悬吊术”，并结合文献复习分析其诊疗要点。结果：术后患儿右眼视力由0.2提升至0.4，左眼视力由0.1提升至0.3，未发生严重并发症。结论：对不明原因晶状体脱位的儿童，需警惕马方综合征，因该疾病罕见且常首诊于眼科，对眼科医生来说，准确诊断与积极治疗极为重要，而术后长期随访不仅是预防严重弱视的有效途径，更能够在很大程度上改善该病的预后。

Abstract: Objective: This paper aims to report the clinical characteristics, diagnosis, and treatment strategy of a case of Marfan Syndrome (MFS), and to analyze the pathogenesis, diagnostic points, and prognosis of the disease. Methods: A 6-year-old boy presented with “poor vision in the right eye for 1 year since physical examination”, and was diagnosed with “Marfan Syndrome” and “subluxation of lens in both eyes” upon examination. He underwent “vitrectomy through bilateral anterior approaches + phacoemulsification + capsular tension ring implantation + intraocular lens suspension surgery”. The diagnostic and treatment points were analyzed in combination with a literature review. Results: Postoperatively, the patient’s vision improved from 0.2 to 0.4 in the right eye and from 0.1 to 0.3 in the left eye, without serious complications. Conclusion: Children with unexplained lens subluxation should be alerted to Marfan Syndrome, as this disease is rare and often first diagnosed in ophthalmology. Accurate diagnosis and aggressive treatment are crucial for ophthalmologists, and long-term postoperative follow-up is not only an effective way to prevent severe amblyopia but also significantly improves the prognosis of the disease.