Marfan syndrome caused by a novel FBN1 mutation with associated pigmentary glaucoma

John Kuchtey, Ta Chen Chang, Lampros Panagis, Rachel W. Kuchtey

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Mutations in fibrillin-1 (FBN1) cause a wide spectrum of disorders, including Marfan syndrome, which have in common defects in fibrillin-1 microfibrils. Ectopia lentis and myopia are frequently observed ocular manifestations of Marfan syndrome. Glaucoma is also associated with Marfan syndrome, though the form of glaucoma has not been well-characterized. In this report, ocular examination of a patient diagnosed with Marfan syndrome based on family history and aortic dilatation was performed, including measurement of facility of aqueous humor outflow by tonography. The patient did not have ectopia lentis at the age of 42 years. Based on optic nerve appearance, reduced outflow facility, elevated IOP with open angles and clear signs of pigment dispersion, the patient was diagnosed with pigmentary glaucoma. The patient was heterozygous for a novel truncating mutation in FBN1, p.Leu72Ter. Histology of normal human eyes revealed abundant expression of elastic fibers and fibrillin-1 in aqueous humor outflow structures. This is the first report of a patient with Marfan syndrome that is caused by a confirmed FBN1 mutation with associated pigmentary glaucoma. In addition to identifying a novel mutation of FBN1 and broadening the spectrum of associated ocular phenotypes in Marfan syndrome, our findings suggest that pigmentary glaucoma may involve defects in fibrillin-1 microfibrils.

Original languageEnglish (US)
Pages (from-to)880-883
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number4
StatePublished - Apr 2013
Externally publishedYes


  • Aqueous humor outflow
  • Fibrillin-1
  • Marfan syndrome
  • Microfibril
  • Pigmentary glaucoma

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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