Macular and choroidal thickness of children with Familial Mediterranean Fever gene mutation

Abstract

Introduction: Thepresent study aimed to evaluate macular and choroidal thicknesses in childrenwith MEFV gene mutations.Methods: Thirty-five childrenwith MEFV gene mutations and 40 healthy controls were included in the study.MEFV gene profiles for the current cohort were genotyped by Pyrosequencing anddirect Sanger sequencing techniques. The thicknesses of the macular and choroidof each subject’s right eye were measured using spectral-domain optic coherencetomography.Results: Meanarteriolar and venular diameters were 95.75±11.98 µm and 127.61±10.44 µm inchildren with the MEFV gene mutations and 110.19±11.10 µm and 138.54±10.04 µmin control group respectively. Children with the MEFV gene mutations were foundto have a significantly less mean arteriolar diameter (p lt;0.001), meanvenular diameter (p lt;0.001), less macular thickness (p=0.016), and lesschoroidal thickness (p=0.014) compared to healthy controls.Conclusion: Children with theMEFV gene mutations had narrowing of the retinalarterioles, retinal venules, and macular and choroidal thinning. Future studiesshould aim to investigate endothelial dysfunction in children with FamilialMediterranean Fever by non-invasive and effective methods.

Keywords

• çocuk
• koroid
• maküler kalınlık
• ailevi akdeniz ateşi
• macular thickness
• child
• choroid
• familial mediterranean fever