Novel FBN1 mutation causes Marfan syndrome with bilateral ectopia lentis and refractory glaucoma

We report the case of a 41-year-old woman with bilateral lens subluxation and medically uncontrolled glaucoma in whom Marfan syndrome (MFS) was diagnosed.

The patient underwent complete clinical eye and systemic examinations and blood samples were drawn for mutational screening of fibrillin 1 gene (FBN1).

The patient was diagnosed with MFS on a clinical basis and according to the Ghent criteria and the genetic testing revealed a novel heterozygous mutation in the FBN1 gene. The patient required pars plana vitrectomy with lensectomy and Ahmed valve implantation in the vitreous cavity to control her severe glaucoma.

The diagnosis of a bilateral lens luxation must be followed by complete systemic examination and genetic analysis of the FBN1 gene in order to discard MFS due to its severe systemic complications. Frequently, the condition causes an aggressive secondary glaucoma that requires surgical treatment with lensectomy, vitrectomy, and drainage device implantation in order to avoid its devastating progression toward glaucomatous optic atrophy.