Olgu Sunumu

Anterior segment and corneal biomechanics of achondroplasia patients

Cilt: 57 Sayı: 2 1 Haziran 2018
  • Melis Palamar *
  • Hüseyin Onay
  • Tahir Atik
  • Suzan Güven Yilmaz
  • Ferda Özkınay
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Anterior segment and corneal biomechanics of achondroplasia patients

Abstract

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.

Keywords

Kaynakça

  1. Vajo Z, Francomano CA, Wilkin DJ. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: The achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev 2000;21(1):23-39.
  2. Shiang R, Thompson LM, Zhu Y-Z, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994;78(2):335-42.
  3. Al Mahmood AM, Al Katan HM, Al Bin Ali GY, Al-Swailem SA. Achondroplasia associated with bilateral keratoconus. Case Rep Ophthalmol Med 2012;2012:573045.
  4. Rabsilber TM, Khoramnia R, Auffarth GU. Anterior chamber measurements using Pentacam rotating Scheimpflug camera. J Cataract Refract Surg 2006;32(3):456-9.
  5. Shah S, Laiquzzaman M, Cunliffe I, Mantry S. The use of Reichert ocular response analyser to establish the relationship between ocular hysteresis, corneal resistance factor and central corneal thickness in normal eyes. Cont Lens Anterior Eye 2006;29(5):257-62.
  6. Robinson ML, Ohtaka-Maruyama C, Chan CC, et al. Dysregulation of ocular morphogenesis by lens specific expression of FGF-3/int-2 in transgenic mice. Dev Biol 1998;198(1):13-31.
  7. Pehlivan S, Özcan A, Okutman Ö, et al. Akondroplazi'de moleküler genetik analizler: Bir ön çalışma. Ege Pediatri Bülteni 2001;8(4):205-8.
  8. Takenaka H, Yasuno H, Kishimoto S. Immunolocalization of fibroblast growth factor receptors innormal and wounded human skin. Arch Dermatol Res 2002;294(7):331-8.

Ayrıntılar

Birincil Dil

İngilizce

Konular

Sağlık Kurumları Yönetimi

Bölüm

Olgu Sunumu

Yazarlar

Hüseyin Onay
0000-0002-0584-8866
Türkiye

Tahir Atik
0000-0002-1142-3872
Türkiye

Suzan Güven Yilmaz
0000-0001-8720-007X
Türkiye

Ferda Özkınay
0000-0001-7542-7787
Türkiye

Yayımlanma Tarihi

1 Haziran 2018

Gönderilme Tarihi

3 Nisan 2017

Kabul Tarihi

8 Mayıs 2017

Yayımlandığı Sayı

Yıl 2018 Cilt: 57 Sayı: 2

Kaynak Göster

Vancouver
1.Melis Palamar, Hüseyin Onay, Tahir Atik, Suzan Güven Yilmaz, Ferda Özkınay. Anterior segment and corneal biomechanics of achondroplasia patients. ETD. 01 Haziran 2018;57(2):122-4. doi:10.19161/etd.414705

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