A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings

Ophthalmic Genet. 2010 Dec;31(4):193-5. doi: 10.3109/13816810.2010.505225. Epub 2010 Sep 1.

Abstract

Purpose: To report a case of a child with Pfeiffer syndrome, unique ocular anterior segment findings and a mutation in FGFR2 (Trp290Cys).

Methods: Case Report.

Results: We describe a patient with Pfeiffer syndrome with a unique constellation of ocular anterior segment anomalies including microcornea, limbal scleralization, corectopia and glaucoma. Genomic DNA extraction was heterozygous for a G to T mutation at nucleotide 870 of the fibroblast growth factor receptor 2 gene (FGFR2) which changes tryptophan (TGG) to cysteine (TGT) at amino acid position 290 (Trp290Cys).

Conclusion: This case supports the association between Pfeiffer syndrome and severe ocular anterior segment anomalies, including glaucoma, and underscores the possible role that FGFR2 has in development of the anterior segment of the eye.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Acrocephalosyndactylia / genetics*
  • Anterior Eye Segment / abnormalities*
  • Cornea / abnormalities
  • DNA Mutational Analysis
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / genetics*
  • Female
  • Gestational Age
  • Glaucoma / genetics
  • Humans
  • Infant
  • Limbus Corneae / abnormalities
  • Point Mutation*
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics*

Substances

  • FGFR2 protein, human
  • Receptor, Fibroblast Growth Factor, Type 2