Screening Of Pathogenic Genes For Marfan Syndrome And Selection Of Surgical Methods For Lens Subluxation

objective: To screen disease-causing gene of Marfan Syndrome from 10 families,compared with other normal families and 1086 normal persons and study pathogenic mechanism of Marfan syndrome.Methods: Gather all clinical manifestations of patients in the 10 families of Marfan syndrome and map the family trees.5 ml peripheral blood of MFS patients and 2 ml peripheral blood of the normal families and 1086 normal persons were collected to extract and purify genomic DNA after obtaining informed consent.All 65 exons and the boundaries of exon and intron of FBN1 gene were analyzed by Sanger sequencing.PolyPhen-2,SIFT,Mutationtaster and ACMG classification were used to predict possible structural and functional changes in FBN1 protein.Results: The patients of 10 families all presented ocular(lens subluxation,high myopia or hyperopia,amblyopia,strabismus,etc.),skeletal(spider finger toe,limbs slender,scoliosis,etc.)and cardiovascular(aortic root dilatation,aortic aneurysm,mitral valve prolapse,etc.)systems,or at least one system of manifestations,and statistically compared with all clinical manifestations of patients from each family;Ten different heterozygous mutations were found,whereas unaffected members and normal persons did not carry these mutations,respectively,which may lead to the destruction of the structure and function of FBN1 protein.Conclusion: The FBN1 gene mutations in the ten families may be the cause of the disease,respectively.The results enriches the FBN1 gene mutation spectrum,provides help for genetic counseling and prenatal diagnosis of families,and provides new ideas for clinical work,and strengthen the understanding of Marfan syndrome.objective: Discuss the surgical treatment of subluxated lens with Marfan syndrome,and report a new surgical technique of scleral-fixated posterior intraocular lens with capsular bag in patients with Marfan syndrome.Methods: We identified 6 eyes of 3 MFS patients with bilateral lens subluxation and irrelevance who the direction and extent of lens subluxation were counted and underwent scleral-fixated intraocular lens(SFIOL)with capsular bag.The complications during the operation as well as the visual acuity,the location of intraocular lens,and all postoperative complications at least 1 year after surgery were recorded in detail.Results: All of 6 eyes in our series had successful primary scleral fixation of the IOL with capsular bag.10-0 non-absorbable polypropylene suture were knotted and fixated at the IOL haptics.The PC-9 needle was externalized approximately 2mm to the limbus,and then the suture was fixated as a zigzag(Z-suture)with 3 passes in shallow sclera with no need of conjunctival incision and knot.Eventually,the position of the IOL was adjusted to remain centered,and at least one year of follow-up is performed.Conclusion: Lens subluxation with MFS have various surgical treatment,and SFIOL with capsular bag in MFS patients is a new surgical method which is a safe method and achieves satisfied visual outcomes.SFIOL with capsular bag can expand the clinical thinking of ophthalmologists,but more clinical data is needed.