Comparison of posterior segment ocular parameters of Familial mediterranean fever with homozygous M694V mutation and carriers with heterozygous M694V mutation in children

KIVRAK U., KÖLE M. T., Küçük N., Akçay G.

Photodiagnosis and Photodynamic Therapy, vol.43, 2023 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 43
  • Publication Date: 2023
  • Doi Number: 10.1016/j.pdpdt.2023.103680
  • Journal Name: Photodiagnosis and Photodynamic Therapy
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Keywords: Familial Mediterranean fever, M694V gene mutation, Macular thickness, Macular vessel density, Optic coherence tomography angiography, Retinal nerve fiber layer
  • Istanbul University Affiliated: No


Purpose: The aim of this study is to comparatively evaluate the posterior segment ocular parameters of Familial Mediterranean fever (FMF) patients, asymptomatic FMF carriers, and the healthy controls in the pediatric age group. Methods: The study included 30 FMF patients with homozygous M694V mutation in remission under colchicine therapy, 12 asymptomatic FMF carriers with heterozygous M694V mutation, and 41 age-sex-matched healthy controls. All patients underwent detailed eye examination, and peripapillary retinal nerve fiber layer (pRNFL) thickness, central macular thickness (CMT), subfoveal choroidal thickness (SCT), macular vascular densities, and foveal avascular zone (FAZ) areas were measured using swept-source optical coherence tomography angiography. Results: In this study, the mean pRNFL thickness was statistically significantly thinner (p = 0.010) in the FMF patients group compared to the FMF carriers group and the healthy control group, especially in the inferior quadrant of pRNFL (p = 0.042). The CMT in asymptomatic FMF carriers group was statistically significantly thicker than in FMF patients group (p = 0.037), especially the superior and inferior quadrants of macula were affected (p = 0.024; p = 0.020, respectively). In addition, this study showed that the changes of pRNFL thickness and CMT in pediatric patients with FMF were moderately correlated with the duration of diagnosis. There was no significant difference between the groups in terms of macular vascular densities and FAZ values. Conclusion: FMF is a hereditary autoinflammatory disease that causes multi-organ involvement, and this study showed that posterior segment ocular parameters could be affected not only in FMF patients but also in asymptomatic FMF carriers.