眼科学报2024，Vol.39Issue(7)：374-380,7.DOI:10.12419/24072404
马方综合征患者眼部生物学参数特点及其对视力的影响
Characteristics of ocular biological parameters and their impact on visual acuity in patients with Marfan syndrome
摘要
Abstract
Marfan syndrome(MFS)is a systemic hereditary disease caused by fibrillin-1(FBN-1)mutations.FBN-1 gene mutations are associated with MFS-related phenotypes.Common ocular manifestations of MFS reported so far include corneal flattening,long axial length,ectopia lentis,and retinal abnormalities.These ocular abnormalities will affect the vision of MFS patients.For example,corneal abnormalities can affect abnormalities in corneal higher-order aberrations,which may lead to abnormal refractive states such as myopia or astigmatism,thereby affecting visual quality and compromising visual acuity.In addition,retinal vascular abnormalities may also lead to vision loss in MFS patients.Studies have found that the density of retinal and choroidal blood vessels in MFS patients is lower than that in normal individuals and is associated with best corrected visual acuity.Given the close relationship between the metabolism and nutrient supply of photoreceptors and retinal and choroidal vasculature,vascular abnormalities may be linked to visual impairment.Since MFS patients are at risk of visual impairment,early diagnosis and treatment are particularly important.Therefore,understanding the characteristics of ocular manifestations in MFS and their impact on vision is crucial for devising effective treatment strategies for MFS-related ocular conditions.Additionally,as ocular abnormalities in MFS are linked to mutations in the FBN1 gene,which exhibit diverse mutation types and complex pathogenic mechanisms,summarizing the ocular features of MFS can provide valuable insights for further exploration into its pathogenesis.Therefore,this article aims to review the progress of domestic and international research on the ocular biological parameters of MFS patients and their impact on vision.关键词
马方综合征/视力/晶状体脱位/视网膜血管/视觉质量Key words
Marfan syndrome/visual acuity/ectopia lentis/retinal blood vessels/visual quality分类
医药卫生引用本文复制引用
伍洁仪,叶倩,刘欣欣,张新愉,靳光明,郑丹莹..马方综合征患者眼部生物学参数特点及其对视力的影响[J].眼科学报,2024,39(7):374-380,7.基金项目
国家自然科学基金(81873673,81900841) （81873673,81900841）
广东省自然科学基金(2021A1515011673,2022A1515011181) （2021A1515011673,2022A1515011181）
广州市基础研究计划市校(院)联合资助项目(SL2023A03J00514).This work was supported by the National Natural Science Foundation of China(81873673,81900841),Guangdong Basic and Applied Basic Research Foundation(2021A1515011673,2022A1515011181),and the Guangzhou Basic Research Program,City&University(Institute)Joint Funding Project,China(SL2023A03J00514). （院）
