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


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


RESULTS
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.


CONCLUSIONS
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.
Institut Clinic d'Oftalmologia, ICOF, Hospital Clinic de Barcelona, Sabino Arana S/N, Barcelona, Spain. emilla@clinic.ub.es
Elena
E
Milla
Ania
A
Leszczynska
Amanda
A
Rey
Manuel
M
Navarro
Concepcion
C
Larena
D000328:Adult; D004479:Ectopia Lentis / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005901:Glaucoma / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D020327:Glaucoma Drainage Implants; D006068:Gonioscopy; D006801:Humans; D007429:Intraocular Pressure; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D019919:Prosthesis Implantation; D014821:Vitrectomy; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines