Investigators at University of Adelaide target Apert syndrome genetics
2007 MAR 6 -- New research, "Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome," is the subject of a report. "Apert syndrome is mostly caused by one of the two specific point mutations in the fibroblast growth factor receptor 2 (FGFR2). The objective of this study was to determine whether there were any differences in the prevalence of ophthalmic features in Apert syndrome when comparing the Ser252Trp and Pro253Arg mutations in FGFR2," investigators in Adelaide, Australia report. "This was a retrospective study of patients with Apert syndrome with genotype analysis. The prevalence of five ophthalmic features, visual impairment, amblyopia, strabismus, corneal abnormality, and pale optic discs, were compared between the two FGFR2 genotypes. There were 25 (74%) cases with Ser252Trp mutation, and 9 (26%) cases with the Pro253Arg mutation in FGFR2. Ophthalmic findings in 20 cases of FGFR2 Ser252Trp and 9 cases of Pro253Arg mutation were compared. Visual acuity worse than 6/12 in at least one eye was present in 60% patients with FGFR2 Ser252Trp mutation compared with 12.5% patients with Pro253Arg mutation (p <0.05). Forty percent of eyes with FGFR2 Ser252Trp mutation compared with 12.5% eyes with Pro253Arg mutation were worse than 6/12. There was a trend of more frequent amblyopia and strabismus in FGFR2 Ser252Trp mutation and more frequent optic disc pallor in the FGFR2 Pro253Arg mutation. There was a differential effect of FGFR2 mutations in ophthalmic findings in patients with Apert syndrome, with significantly greater prevalence of visual impairment in the Ser252Trp mutation compared with the Pro253Arg mutation," wrote J.J. Khong and colleagues, University of Adelaide. The researchers concluded: "Further study would elucidate whether the trends in differential effects between the two mutations in amblyopia, strabismus, and optic disc pallor represent real differences." Khong and colleagues published their study in the Journal of Craniofacial Surgery (Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome. Journal of Craniofacial Surgery, 2007;18(1):39-42). For additional information, contact J.J. Khong, University of Adelaide, University of Adelaide, Dept. of Ophthalmology and Visual Science, Adelaide, South Australia. The publisher of the Journal of Craniofacial Surgery can be contacted at: Lippincott Williams & Wilkins, 530 Walnut St., Philadelphia, PA 19106-3621, USA. Keywords: Australia, Adelaide, Apert Syndrome Genetics, Acrocephalosyndactylia, Amblyopia, Apert Syndrome, Genotyping, Ophthalmology, Strabismus, Surgery. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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