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马凡综合征的屈光改变:一篇叙述性综述。

Refractive Alterations in Marfan Syndrome: A Narrative Review.

作者信息

Vakalopoulos Dionysios G, Lampsas Stamatios, Chatzea Marina S, Togka Konstantina A, Tsagkogiannis Vasileios, Mitsopoulou Dimitra, Lalou Lida, Lampsa Aikaterini, Katsimpras Marios, Petrou Petros, Kymionis George D

机构信息

1st Department of Ophthalmology, "G. Gennimatas" Hospital, Medical School, National and Kapodistrian University of Athens, 11528 Athens, Greece.

2nd Department of Ophthalmology, Attikon University Hospital, Medical School, National and Kapodistrian University of Athens, 11528 Athens, Greece.

出版信息

Medicina (Kaunas). 2025 Feb 1;61(2):250. doi: 10.3390/medicina61020250.

Abstract

Marfan syndrome (MFS) is a genetic disorder that affects the connective tissue in several systems, with ocular, cardiovascular, and skeletal system manifestations. Its ocular manifestations include ectopia lentis (EL), myopia, astigmatism, and corneal abnormalities. This review examines refractive alterations related to MFS such as EL, microspherophakia, lens coloboma, altered corneal biomechanics (flattening, thinning, and astigmatism), and myopia and their impact on visual acuity. The pathogenesis of these manifestations stems from mutations in the FBN1 gene (encoding fibrillin-1). Moreover, the current medical and surgical management strategies for MFS-related refractive errors, including optical correction (eyeglasses, contact lenses, etc.), and surgical interventions like lensectomy, intraocular lens (IOL) implantation (anterior chamber, posterior chamber, scleral-fixated, iris-fixated), and the use of capsular tension rings/segments are further discussed. Considering the likelihood of underdiagnosing and underestimating ocular involvement in MFS, this updated review highlights the critical need to identify and address these refractive issues to enhance the visual outcomes for those affected.

摘要

马凡综合征(MFS)是一种遗传性疾病,会影响多个系统的结缔组织,出现眼部、心血管和骨骼系统表现。其眼部表现包括晶状体异位(EL)、近视、散光和角膜异常。本综述探讨了与马凡综合征相关的屈光改变,如晶状体异位、小球形晶状体、晶状体缺损、角膜生物力学改变(变平、变薄和散光)以及近视,及其对视力的影响。这些表现的发病机制源于FBN1基因(编码原纤维蛋白-1)的突变。此外,还进一步讨论了马凡综合征相关屈光不正的当前药物和手术治疗策略,包括光学矫正(眼镜、隐形眼镜等),以及手术干预,如晶状体切除术、人工晶状体(IOL)植入(前房、后房、巩膜固定、虹膜固定),以及使用囊袋张力环/节段。考虑到马凡综合征眼部受累可能存在诊断不足和低估的情况,本次更新综述强调了识别和解决这些屈光问题对于改善患者视力结局的迫切需求。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d3fd/11857730/b354379ac3f1/medicina-61-00250-g001.jpg

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