Ocular inflammatory diseases in children with familial Mediterranean fever: a true association or a coincidence?

Purpose To describe the characteristics of patients with familial Mediterranean fever (FMF) with concurrent ocular inflammatory disease (OID) and to analyze possible relations between them. Methods Clinical data were extracted from electronic medical records. Additionally, the medical literature on OIDs reported in patients with FMF was reviewed. Results Among 512 pediatric patients with FMF, five cases were found to have OIDs: bilateral anterior chronic uveitis, bilateral panuveitis, recurrent optic neuritis (RON), recurrent orbital myositis (ROM), and acquired Brown’s syndrome. The first cases of ROM and acquired Brown’s syndrome in FMF have been described in the literature. All cases presented with early-onset typical FMF attacks, carried at least one M694V mutation, and experienced OID while on colchicine. Conclusion Increased frequency of OIDs in FMF as per the pediatric population and relapsing and chronic course of OIDs occasionally with concurrent FMF attacks suggest that this inflammatory syndrome, especially those carrying M694V mutations, may be a predisposing factor for OIDs.