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Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations.
J AAPOS. 2006 Dec; 10(6):521-7.JA

Abstract

BACKGROUND/PURPOSE

Apert syndrome, a disorder of craniosynostosis, syndactyly, and other craniofacial malformations, is caused by point mutations (Ser252Trp or Pro253Arg) in the fibroblast growth factor receptor 2 gene. This study's goal was to determine ophthalmic phenotype/genotype correlations in patients with either mutation.

METHODS

A retrospective chart review of demographic and ophthalmologic data was performed for 18 children carrying either the S252W (11) or the P253R (7) mutation. Fisher exact tests were performed to determine significance of variable phenotypes between the two mutation groups.

RESULTS

In the P253R group, 85% had strabismus (14% required surgery), 71% had ptosis, 43% had amblyopia, 14% had nasolacrimal duct obstruction, 14% had myopia, 14% had hyperopia, and 14% had astigmatism. In the S252W group, 91% had strabismus (64% required surgery), 73% had ptosis, 73% had amblyopia, 100% had nasolacrimal duct obstruction, 36% had myopia, 9% had hyperopia, and 82% had astigmatism. Overall, S252W and P253R groups showed significantly different numbers of patients with strabismus requiring surgery (p = 0.039), superior rectus muscle underaction (p = 0.024), nasolacrimal duct obstruction (p = 0.0002), and astigmatism (p = 0.005).

CONCLUSIONS

Compared with patients with the P253R mutation, Apert syndrome patients with the S252W mutation may have more severe ocular phenotypes with a higher likelihood of developing strabismus, especially vertical deviation. They also are more likely to develop astigmatic refractive errors and tearing secondary to nasolacrimal system anomalies.

Authors+Show Affiliations

University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17189145

Citation

Jadico, Suzanne K., et al. "Ocular Abnormalities in Apert Syndrome: Genotype/phenotype Correlations With Fibroblast Growth Factor Receptor Type 2 Mutations." Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, vol. 10, no. 6, 2006, pp. 521-7.
Jadico SK, Young DA, Huebner A, et al. Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations. J AAPOS. 2006;10(6):521-7.
Jadico, S. K., Young, D. A., Huebner, A., Edmond, J. C., Pollock, A. N., McDonald-McGinn, D. M., Li, Y. J., Zackai, E. H., & Young, T. L. (2006). Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations. Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 10(6), 521-7.
Jadico SK, et al. Ocular Abnormalities in Apert Syndrome: Genotype/phenotype Correlations With Fibroblast Growth Factor Receptor Type 2 Mutations. J AAPOS. 2006;10(6):521-7. PubMed PMID: 17189145.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations. AU - Jadico,Suzanne K, AU - Young,David A, AU - Huebner,Alexandra, AU - Edmond,Jane C, AU - Pollock,Avrum N, AU - McDonald-McGinn,Donna M, AU - Li,Yi-Ju, AU - Zackai,Elaine H, AU - Young,Terri L, PY - 2006/02/03/received PY - 2006/07/31/accepted PY - 2006/12/26/pubmed PY - 2007/2/16/medline PY - 2006/12/26/entrez SP - 521 EP - 7 JF - Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus JO - J AAPOS VL - 10 IS - 6 N2 - BACKGROUND/PURPOSE: Apert syndrome, a disorder of craniosynostosis, syndactyly, and other craniofacial malformations, is caused by point mutations (Ser252Trp or Pro253Arg) in the fibroblast growth factor receptor 2 gene. This study's goal was to determine ophthalmic phenotype/genotype correlations in patients with either mutation. METHODS: A retrospective chart review of demographic and ophthalmologic data was performed for 18 children carrying either the S252W (11) or the P253R (7) mutation. Fisher exact tests were performed to determine significance of variable phenotypes between the two mutation groups. RESULTS: In the P253R group, 85% had strabismus (14% required surgery), 71% had ptosis, 43% had amblyopia, 14% had nasolacrimal duct obstruction, 14% had myopia, 14% had hyperopia, and 14% had astigmatism. In the S252W group, 91% had strabismus (64% required surgery), 73% had ptosis, 73% had amblyopia, 100% had nasolacrimal duct obstruction, 36% had myopia, 9% had hyperopia, and 82% had astigmatism. Overall, S252W and P253R groups showed significantly different numbers of patients with strabismus requiring surgery (p = 0.039), superior rectus muscle underaction (p = 0.024), nasolacrimal duct obstruction (p = 0.0002), and astigmatism (p = 0.005). CONCLUSIONS: Compared with patients with the P253R mutation, Apert syndrome patients with the S252W mutation may have more severe ocular phenotypes with a higher likelihood of developing strabismus, especially vertical deviation. They also are more likely to develop astigmatic refractive errors and tearing secondary to nasolacrimal system anomalies. SN - 1091-8531 UR - https://www.unboundmedicine.com/medline/citation/17189145/Ocular_abnormalities_in_Apert_syndrome:_genotype/phenotype_correlations_with_fibroblast_growth_factor_receptor_type_2_mutations_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1091-8531(06)00488-5 DB - PRIME DP - Unbound Medicine ER -