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Ege Journal of Medicine
2018, Cilt 57, Sayı 2, Sayfa(lar) 122-124
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Anterior segment and corneal biomechanics of achondroplasia patients
Melis Palamar1, Huseyin Onay2, Tahir Atik3, Suzan Güven Yilmaz1,Ferda Ozkınay3
1Ege University Faculty of Medicine, Department of Ophtalmology, İzmir, Turkey
2Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey
3Ege University Faculty of Medicine, Department of Pediatrics, İzmir, Turkey
Keywords: Achondroplasia, FGFR3, genetics, Ocular Response Analyser, pentacam

Herein the anterior segment findings with Pentacam and corneal biomechanics with Ocular Response Analyser of 4 genetically proven cases of achondroplasia are reported. Four patients with heterozygous gain of function p.G380R mutation in fibroblast growth factor Receptor 3 (FGFR3) gene were evaluated. Central corneal thickness was higher than normal in both eyes of one patient, and corneal hysteresis and corneal resistance factor was lower in three eyes of two patients with accompanying high intraocular pressure readings. As a result, the affection of FGFR3 in achondroplasia patients might cause changes in central corneal thickness, corneal hysteresis and corneal resistance factor.

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