Marfan Syndrome in Ophthalmology

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KORESPONDENCIJA / CORRESPONDENCE Authors report the case of a 59-year old woman with bilateral posterior lens luxation in vitreous, medically controlled glaucoma and corneal adherent leucoma with vascularization in whom Marfan syndrome was diagnosed. e patient underwent complete clinical eye and systemic examinations and blood samples were drawn for mutational screening of €brillin1 gene (FBN1). e patient was diagnosed with Marfan syndrome on clinical basis do to genetic testing revealed a new heterozygous mutation in the FBN1 gene and described with ocular signs. e patient required pars plane vitrectomy with lensectomy, or Ahmed valve implantation in vitreous to control glaucoma secondary, but the €nally treatment was without surgical modules from recommendation of referent expert team. In our patient glaucoma secondary was under therapy control.

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تاریخ انتشار 2014