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

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.