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Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations.

Publication ,  Journal Article
Jadico, SK; Huebner, A; McDonald-McGinn, DM; Zackai, EH; Young, TL
Published in: J AAPOS
October 2006

BACKGROUND/PURPOSE: Despite the similar clinical phenotype of the Saethre-Chotzen and Muenke craniosynostoses, the 2 syndromes are now genotypically distinct. Patients with Saethre-Chotzen and Muenke syndromes carry mutations in the TWIST and fibroblast growth factor receptor (FGFR) 3 genes, respectively. We sought to assess possible ocular phenotypic differences in patients with mutations of either gene previously grouped according to phenotype only. METHODS: A retrospective chart review was performed for 21 children with known mutations of the TWIST (n=10) or the FGFR3 (n=11) genes. Data gathered included patient sex, age, family craniofacial history, craniofacial and ophthalmic surgeries, type of strabismus, ptosis, cycloplegic refraction, visual acuity, the presence of amblyopia, nasolacrimal duct obstruction (NLDO), nystagmus, hypertelorism, epicanthal fold anomalies, and any ocular structural abnormalities. RESULTS: In the TWIST group, ptosis was present in 90%, amblyopia in 70%, horizontal strabismus in 70%, vertical strabismus in 60%, NLDO in 60%, astigmatism in 50%, inferior oblique overaction (IOOA) in 40%, hyperopia in 40%, myopia in 30%, nystagmus in 30%, and optic nerve findings in 30%. In the FGFR3 group, ptosis was present in 36%, amblyopia in 18%, horizontal strabismus in 55%, vertical strabismus in 36%, NLDO in 0%, astigmatism in 9%, IOOA in 45%, hyperopia in 27%, myopia in 18%, nystagmus in 18%, and optic nerve findings in 27%. CONCLUSIONS: Patients with TWIST gene mutations may have more ophthalmic abnormalities, including more strabismus, ptosis, NLDO, astigmatism, vertical deviations, and amblyopia compared with patients with FGFR3 gene mutations.

Duke Scholars

Published In

J AAPOS

DOI

ISSN

1091-8531

Publication Date

October 2006

Volume

10

Issue

5

Start / End Page

435 / 444

Location

United States

Related Subject Headings

  • Twist-Related Protein 1
  • Strabismus
  • Retrospective Studies
  • Receptor, Fibroblast Growth Factor, Type 3
  • Polymerase Chain Reaction
  • Phenotype
  • Ophthalmology & Optometry
  • Nuclear Proteins
  • Mutation
  • Male
 

Citation

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ICMJE
MLA
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Jadico, S. K., Huebner, A., McDonald-McGinn, D. M., Zackai, E. H., & Young, T. L. (2006). Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. J AAPOS, 10(5), 435–444. https://doi.org/10.1016/j.jaapos.2006.06.008
Jadico, Suzanne K., Alexandra Huebner, Donna M. McDonald-McGinn, Elaine H. Zackai, and Terri L. Young. “Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations.J AAPOS 10, no. 5 (October 2006): 435–44. https://doi.org/10.1016/j.jaapos.2006.06.008.
Jadico SK, Huebner A, McDonald-McGinn DM, Zackai EH, Young TL. Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. J AAPOS. 2006 Oct;10(5):435–44.
Jadico, Suzanne K., et al. “Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations.J AAPOS, vol. 10, no. 5, Oct. 2006, pp. 435–44. Pubmed, doi:10.1016/j.jaapos.2006.06.008.
Jadico SK, Huebner A, McDonald-McGinn DM, Zackai EH, Young TL. Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations. J AAPOS. 2006 Oct;10(5):435–444.
Journal cover image

Published In

J AAPOS

DOI

ISSN

1091-8531

Publication Date

October 2006

Volume

10

Issue

5

Start / End Page

435 / 444

Location

United States

Related Subject Headings

  • Twist-Related Protein 1
  • Strabismus
  • Retrospective Studies
  • Receptor, Fibroblast Growth Factor, Type 3
  • Polymerase Chain Reaction
  • Phenotype
  • Ophthalmology & Optometry
  • Nuclear Proteins
  • Mutation
  • Male