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马凡综合征晶状体脱位的手术治疗策略
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Abstract:
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。
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.
| [1] | Du, Q., Zhang, D., Zhuang, Y., Xia, Q., Wen, T. and Jia, H. (2021) The Molecular Genetics of Marfan Syndrome. International Journal of Medical Sciences, 18, 2752-2766. https://doi.org/10.7150/ijms.60685 |
| [2] | Bitterman, A.D. and Sponseller, P.D. (2017) Marfan Syndrome: A Clinical Update. Journal of the American Academy of Orthopaedic Surgeons, 25, 603-609. https://doi.org/10.5435/jaaos-d-16-00143 |
| [3] | 杨书婷, 罗芳. 马方综合征的最新诊疗进展[J]. 中国当代儿科杂志, 2022, 24(7): 826-831. |
| [4] | Zeigler, S.M., Sloan, B. and Jones, J.A. (2021) Pathophysiology and Pathogenesis of Marfan Syndrome. In: Halper, J., Ed., Progress in Heritable Soft Connective Tissue Diseases, Springer, 185-206. https://doi.org/10.1007/978-3-030-80614-9_8 |
| [5] | Sun, Y., Zhou, D., Wang, S., Ding, J. and Ma, F. (2021) Updated Genetic Studies of Marfan Syndrome in China. Intractable & Rare Diseases Research, 10, 288-291. https://doi.org/10.5582/irdr.2021.01139 |
| [6] | Nelson, L.B. and Maumenee, I.H. (1982) Ectopia Lentis. Survey of Ophthalmology, 27, 143-160. https://doi.org/10.1016/0039-6257(82)90069-8 |
| [7] | Cassady, J.V. and McFarland, C.B. (1947) Arachnodactyly (Marfan’s Syndrome) Associated with Ectopia Lentis. Report of a Case with Pigmentation of the Cornea. American Journal of Ophthalmology, 30, 469-474. https://doi.org/10.1016/0002-9394(47)91186-0 |
| [8] | Coelho, S.G. and Almeida, A.G. (2020) Marfan Syndrome Revisited: From Genetics to Clinical Practice. Revista Portuguesa de Cardiologia (English Edition), 39, 215-226. https://doi.org/10.1016/j.repce.2020.04.004 |
| [9] | Loeys, B.L., Dietz, H.C., Braverman, A.C., Callewaert, B.L., De Backer, J., Devereux, R.B., et al. (2010) The Revised Ghent Nosology for the Marfan Syndrome. Journal of Medical Genetics, 47, 476-485. https://doi.org/10.1136/jmg.2009.072785 |
| [10] | Ansari, S., Esfandiari, H., Mohammad-Rabei, H. and Mets, M. (2019) Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective. Journal of Ophthalmic and Vision Research, 14, 71-77. https://doi.org/10.4103/jovr.jovr_29_18 |
| [11] | Marelli, S., Micaglio, E., Taurino, J., Salvi, P., Rurali, E., Perrucci, G.L., et al. (2023) Marfan Syndrome: Enhanced Diagnostic Tools and Follow-Up Management Strategies. Diagnostics, 13, Article 2284. https://doi.org/10.3390/diagnostics13132284 |
| [12] | Wang, Y., Lian, Z., Zhou, Y., Li, X., Wu, J., Zhang, X., et al. (2020) Differential Diagnosis of Marfan Syndrome Based on Ocular Biologic Parameters. Annals of Translational Medicine, 8, 1354-1354. https://doi.org/10.21037/atm-20-1069 |
| [13] | Kinori, M., Wehrli, S., Kassem, I.S., Azar, N.F., Maumenee, I.H. and Mets, M.B. (2017) Biometry Characteristics in Adults and Children with Marfan Syndrome: From the Marfan Eye Consortium of Chicago. American Journal of Ophthalmology, 177, 144-149. https://doi.org/10.1016/j.ajo.2017.02.022 |
| [14] | Milewicz, D.M., Braverman, A.C., De Backer, J., Morris, S.A., Boileau, C., Maumenee, I.H., et al. (2021) Marfan syndrome. Nature Reviews Disease Primers, 7, Article No. 64. https://doi.org/10.1038/s41572-021-00298-7 |
| [15] | Hirashima, D.E., Soriano, E.S., Meirelles, R.L., Alberti, G.N. and Nosé, W. (2010) Outcomes of Iris-Claw Anterior Chamber versus Iris-Fixated Foldable Intraocular Lens in Subluxated Lens Secondary to Marfan Syndrome. Ophthalmology, 117, 1479-1485. https://doi.org/10.1016/j.ophtha.2009.12.043 |
| [16] | Hsu, H.Y., Edelstein, S.L. and Lind, J.T. (2012) Surgical Management of Non-Traumatic Pediatric Ectopia Lentis: A Case Series and Review of the Literature. Saudi Journal of Ophthalmology, 26, 315-321. https://doi.org/10.1016/j.sjopt.2012.05.001 |
| [17] | Shahid, S.M., Flores-Sánchez, B.C., Chan, E.W., Anguita, R., Ahmed, S.N., Wickham, L., et al. (2021) Scleral-Fixated Intraocular Lens Implants—Evolution of Surgical Techniques and Future Developments. Eye, 35, 2930-2961. https://doi.org/10.1038/s41433-021-01571-5 |
| [18] | Maharana, P.K., Sahay, P., Mandal, S., Lakshmi, C.C., Goel, S., Nagpal, R., et al. (2022) Outcomes of Surgical Intervention in Cases of Ectopia Lentis. Indian Journal of Ophthalmology, 70, 2432-2438. https://doi.org/10.4103/ijo.ijo_255_22 |
| [19] | Lambert, S.R., Buckley, E.G., Drews-Botsch, C., et al. (2010) A Randomized Clinical Trial Comparing Contact Lens with Intraocular Lens Correction of Monocular Aphakia during Infancy: Grating Acuity and Adverse Events at Age 1 Year. Infant Aphakia Treatment Study Group. Archives of Ophthalmological Research, 128, 810-818. |
| [20] | Griener, E.D., Dahan, E. and Lambert, S.R. (1999) Effect of Age at Time of Cataract Surgery on Subsequent Axial Length Growth in Infant Eyes. Journal of Cataract and Refractive Surgery, 25, 1209-1213. https://doi.org/10.1016/s0886-3350(99)00158-3 |
| [21] | He, J., Lian, Z., Cao, Q., Liu, Z., Young, C.A., Zhang, X., et al. (2022) Longitudinal Changes of Axial Length and Associated Factors in Congenital Ectopia Lentis Patients. Journal of Ophthalmology, 2022, Article ID: 4032283. https://doi.org/10.1155/2022/4032283 |
| [22] | Rezar‐Dreindl, S., Stifter, E., Neumayer, T., Papp, A., Gschliesser, A. and Schmidt‐Erfurth, U. (2019) Visual Outcome and Surgical Results in Children with Marfan Syndrome. Clinical & Experimental Ophthalmology, 47, 1138-1145. https://doi.org/10.1111/ceo.13596 |
| [23] | Dryjski, O., Awidi, A. and Daoud, Y.J. (2019) Femtosecond Laser-Assisted Cataract Surgery in Patients with Zonular Weakness. American Journal of Ophthalmology Case Reports, 15, Article ID: 100483. https://doi.org/10.1016/j.ajoc.2019.100483 |
| [24] | Chen, D.Z. and Chee, S. (2024) Femtosecond Laser-Assisted Cataract Surgery for Complex Cataracts—A Review. Indian Journal of Ophthalmology, 72, 629-636. https://doi.org/10.4103/ijo.ijo_2996_23 |
| [25] | Roberts, H.W., Day, A.C. and O’Brart, D.P. (2019) Femtosecond Laser-Assisted Cataract Surgery: A Review. European Journal of Ophthalmology, 30, 417-429. https://doi.org/10.1177/1120672119893291 |
| [26] | Al-Dwairi, R.A., Shihadeh, W.A., Alqudah, A.A., Alqudah, N.M., Msallam, M., Alrazem, F., et al. (2022) Outcomes of Iris-Claw IOL Implantation in Patients with Marfan’s Syndrome in Jordan. Clinical Ophthalmology, 16, 3811-3819. https://doi.org/10.2147/opth.s385352 |
| [27] | Chen, Z., Zhang, M., Deng, M., Chen, T., Chen, J., Zheng, J., et al. (2021) Surgical Outcomes of Modified Capsular Tension Ring and Intraocular Lens Implantation in Marfan Syndrome with Ectopia Lentis. European Journal of Ophthalmology, 32, 924-932. https://doi.org/10.1177/11206721211012868 |
| [28] | Gao, X., Zhu, W., Tian, J., Sun, X., Ni, Z., Yuan, G., et al. (2022) Outcomes of Transscleral Two-Point Fixation versus Closed Continuous-Loop Four-Point Fixation of Intraocular Lens in Subluxated Lens Secondary to Marfan Syndrome. Ophthalmology and Therapy, 11, 1493-1502. https://doi.org/10.1007/s40123-022-00519-6 |
| [29] | Karjou, Z., Karimi, S., Yaghoobi, M., Nikkhah, H. and Safi, S. (2023) Pars Plana Lensectomy and Iris-Claw Artisan Intraocular Lens Implantation in Patients with Marfan Syndrome. Oman Journal of Ophthalmology, 16, 64-68. https://doi.org/10.4103/ojo.ojo_25_22 |
| [30] | Hoffman, R.S., Snyder, M.E., Devgan, U., Allen, Q.B., Yeoh, R. and Braga-Mele, R. (2013) Management of the Subluxated Crystalline Lens. Journal of Cataract and Refractive Surgery, 39, 1904-1915. https://doi.org/10.1016/j.jcrs.2013.09.005 |
| [31] | Dietlein, T.S. (2007) Cionni Capsular Tension Ring Implantation in Marfan’s Syndrome. British Journal of Ophthalmology, 91, 1419-1420. https://doi.org/10.1136/bjo.2007.119743 |
| [32] | Xu, X.Y., X., Gao, R.Y., Yu, C.X., et al. (2017) The Application of Suspension Lens Capsular Tension Ring in Lens Subluxation Surgery. Journal of Binzhou Medical University, 40, 366-367. |
| [33] | Menapace, R., Findl, O., Georgopoulos, M., Rainer, G., Vass, C. and Schmetterer, K. (2000) The Capsular Tension Ring: Designs, Applications, and Techniques. Journal of Cataract and Refractive Surgery, 26, 898-912. https://doi.org/10.1016/s0886-3350(00)00446-6 |
| [34] | Chee, S. and Chan, N.S. (2018) Suture Snare Technique for Scleral Fixation of Intraocular Lenses and Capsular Tension Devices. British Journal of Ophthalmology, 102, 1317-1319. https://doi.org/10.1136/bjophthalmol-2018-311868 |
| [35] | Zhao, Y., Li, J., Yang, K., Li, X. and Zhu, S. (2016) Combined Special Capsular Tension Ring and Toric IOL Implantation for Management of Astigmatism and High Axial Myopia with Cataracts. Seminars in Ophthalmology, 33, 389-394. https://doi.org/10.1080/08820538.2016.1247181 |
| [36] | Ahmed, I.I.K., Cionni, R.J., Kranemann, C. and Crandall, A.S. (2005) Optimal Timing of Capsular Tension Ring Implantation: Miyake-Apple Video Analysis. Journal of Cataract and Refractive Surgery, 31, 1809-1813. https://doi.org/10.1016/j.jcrs.2005.02.048 |
| [37] | Wang, A., Fan, Q., Jiang, Y. and Lu, Y. (2021) Primary Scleral-Fixated Posterior Chamber Intraocular Lenses in Patients with Congenital Lens Subluxation. BMC Ophthalmology, 21, Article No. 411. https://doi.org/10.1186/s12886-021-02182-0 |
| [38] | Oudjani, N., Renault, D., Courrier, E. and Malek, Y. (2019) Phacoemulsification and Zonular Weakness: Contribution of the Capsular Tension Ring with a Thread. Clinical Ophthalmology, 13, 2301-2304. https://doi.org/10.2147/opth.s212063 |
| [39] | Dogaroiu, A.C., Dogaroiu, C. and Tataru, C.P. (2022) Ectopia Lentis Surgery in Marfan’s Syndrome: From “Couching” to the Use of Intra-Capsular Tension Ring. Romanian Journal of Ophthalmology, 66, 2-7. |
| [40] | Soraya Alamsjah, S.H.Z., Yulia, D.E. and Tan, S. (2024) Scleral-Fixated vs Iris-Fixated Intraocular Lens in Pediatric Ectopia Lentis: A Systematic Review. European Journal of Ophthalmology, 34, 1642-1654. https://doi.org/10.1177/11206721241242158 |
| [41] | Luebke, J., Reinhard, T., Agostini, H., Boehringer, D. and Eberwein, P. (2017) Long-Term Follow-Up after Scleral Lens Fixation in Patients with Marfan Syndrome. BMC Ophthalmology, 17, Article No. 235. https://doi.org/10.1186/s12886-017-0625-x |
| [42] | Patel, L.G., Starr, M.R., Ammar, M.J. and Yonekawa, Y. (2020) Scleral Fixated Secondary Intraocular Lenses: A Review of Recent Literature. Current Opinion in Ophthalmology, 31, 161-166. https://doi.org/10.1097/icu.0000000000000661 |
| [43] | Lewis, J.S. (1993) Sulcus Fixation without Flaps. Ophthalmology, 100, 1346-1350. https://doi.org/10.1016/s0161-6420(93)31477-6 |
| [44] | Cavallini, G.M., Volante, V., De Maria, M., Torlai, G., Forlini, M., Chiesi, L., et al. (2015) Long-Term Analysis of IOL Stability of the Lewis Technique for Scleral Fixation. European Journal of Ophthalmology, 25, 525-528. https://doi.org/10.5301/ejo.5000652 |
| [45] | Kelkar, A., Kelkar, J., Kothari, A., Mehta, H., Chitale, S., Fogla, R., et al. (2018) Comparison of Two Modified Sutureless Techniques of Scleral Fixation of Intraocular Lens. Ophthalmic Surgery, Lasers and Imaging Retina, 49, e129-e134. https://doi.org/10.3928/23258160-20181002-15 |
| [46] | Gabor, S.G.B. and Pavlidis, M.M. (2007) Sutureless Intrascleral Posterior Chamber Intraocular Lens Fixation. Journal of Cataract and Refractive Surgery, 33, 1851-1854. https://doi.org/10.1016/j.jcrs.2007.07.013 |
| [47] | Yamane, S., Sato, S., Maruyama-Inoue, M. and Kadonosono, K. (2017) Flanged Intrascleral Intraocular Lens Fixation with Double-Needle Technique. Ophthalmology, 124, 1136-1142. https://doi.org/10.1016/j.ophtha.2017.03.036 |
| [48] | Miraldi Utz, V., Coussa, R.G. and Traboulsi, E.I. (2014) Surgical Management of Lens Subluxation in Marfan Syndrome. Journal of American Association for Pediatric Ophthalmology and Strabismus, 18, 140-146. https://doi.org/10.1016/j.jaapos.2013.12.007 |
| [49] | Park, S.C., Chung, E., Chung, T., Kim, S. and Oh, S.Y. (2010) Axial Growth and Binocular Function Following Bilateral Lensectomy and Scleral Fixation of an Intraocular Lens in Nontraumatic Ectopia Lentis. Japanese Journal of Ophthalmology, 54, 232-238. https://doi.org/10.1007/s10384-009-0797-x |
| [50] | Dogaroiu, A.C., Dudau, M., Dogaroiu, C. and Tataru, C.P. (2024) Visual Outcomes in Ectopia Lentis in Marfan Syndrome: A Study of Four Surgical Techniques in Children and Adults. Medicina, 60, Article 1098. https://doi.org/10.3390/medicina60071098 |
