马方综合征患者眼部生物学参数特点及其对视力的影响OA

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.