马凡综合征晶状体脱位的手术治疗策略

Surgical Treatment Strategies for Ectopia Lentis in Marfan Syndrome

摘要: 马凡综合征是一种罕见的体染色体显性遗传疾病，由位于15号染色体上的纤维蛋白原-1基因突变所引起，造成全身结缔组织结构破坏，进一步引发身体多处器官和系统病变。依据2010年重新修订的马凡综合征的诊断标准，特别强调主动脉根部扩张与晶状体脱位的重要性。晶状体悬韧带纤维结构缺陷造成的晶状体脱位，被认为是马凡综合征主要临床特征，对马凡综合征的鉴别诊断具有高度的敏感性与特异性。约60%的病人有此病变，且大多数病人在青少年时期被诊断出来。一旦发生晶状体脱位，若未能在早期详细检查与适当治疗，将造成屈光不正、儿童弱视、白内障、继发性青光眼、葡萄膜炎甚至视网膜脱离等风险。轻度晶状体半脱位可采取保守疗法屈光矫正与弱视治疗，当晶状体严重脱位或保守疗法无法达到良好矫正视力时，则需考虑进行手术治疗。由于悬韧带无力与囊袋异常造成晶状体不稳定、玻璃体紊乱和内皮细胞损伤，使得晶状体脱位手术变得具有挑战性。因此，发展出许多不同的手术方式以完善克服各种挑战。本篇综述将简要概述马凡综合征晶状体脱位的各种手术治疗策略。

Abstract: Marfan syndrome is a rare autosomal dominant hereditary disorder that results from mutations in the fibrillin-1 (FBN1) gene located on chromosome 15, which causes systematic connective tissue disruption and further induces multiple organs and systems dysfunction. According to the revised diagnostic criteria for Marfan syndrome in 2010, which especially emphasizes the importance of aortic root dilatation and ectopia lentis. Ciliary zonular fibrillin defect causes ectopia lentis which has been considered a cardinal clinical feature of Marfan syndrome and differentiated Marfan Syndrome with more sensitivity and specificity. About 60% of Marfan syndrome patients will develop this lesion, with the majority of patients being diagnosed during adolescence. If left undetected or inadequately managed, ectopia lentis may lead to some risks, including refractive error, amblyopia in children, cataract, secondary glaucoma, uveitis, and even retinal detachment. Mild subluxated lens can be managed conservatively through refractive correction and amblyopia therapy. However, in cases of significant lens dislocation or inability to achieve satisfactory visual outcomes after conservative treatments, surgical intervention is warranted. Because ciliary zonular weakness and capsular bag loss induces lens instability, vitreous disturbance, and endothelial cell damage, the surgical intervention for ectopia lentis is considered a challenge. As a result, many surgical techniques have been developed and refined to overcome these challenges. This article provides a brief overview of various surgical strategies employed in the management of ectopia lentis with Marfan syndrome.