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Article

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

American journal of medical genetics. Part A - 1 Apr 2013

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

Abstract excerpt

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...

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Identifiers

PMID: 23444230
DOI: 10.1002/ajmg.a.35838
PMCID: PMC3638319

Genes

FBN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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