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| Title | Familial Mediterranean Fever Associated Uveitis: Genetic and Clinical Characteristics |
| Accept poster if oral is not possible ? | Yes |
| Purpose | To evaluate clinical and genetic profile and variations in Familial Mediterranean Fever (FMF) patients who also diagnosed with uveitis. |
| Methods | The medical charts of 18 uveitis patients with FMF were reviewed retrospectively. Full ophthalmologic examinations, type, laterality, course of uveitis, treatment, and FMF DNA analysis reports were noted. The patients without DNA analysis were excluded. |
| Results | Ten of 18 patients with FMF and uveitis had genetic analysis report. Median age was 22.5 (3-53) years. Seven patients (70%) were female. Eight of 10 patients have M694V mutation. Five of eight patients (50%) had homozygote M694V mutation. Heterozygote M694V mutation found in one patient and the others had compound heterozygote mutation (M694V/M680I and M694V/E148Q). Heterozygote M608I and heterozygote V726A mutations found in two patients. All mutations were located on exon 10 of chromosome 16 except E148Q, which located in exon 2. Four patients (40%) had bilateral uveitis. Eight patients (80%) had anterior uveitis, one patient had intermediary uveitis and one patient had posterior uveitis. Seven patients (70%) had chronic course of uveitis, two patients had recurrent and one patient had acute uveitis. Chronic cases were required systemic immunosuppression therapy with azathioprine (three patients), methotrexate (two patients) and adalimumab (one patient). |
| Conclusion | Ocular involvement in FMF is very rare and presents mostly with anterior uveitis showing a tendency for chronic or recurrent course. Patients with M694V mutations seem to have a predisposition towards developing uveitis. |
| Conflict of interest | No |
Author 1
| Last name | OZDEMIR |
| Initials of first name(s) | HB |
| Department | Ulucanlar Eye Training and Research Hospital |
| City | Ankara |
| Country | Turkey |
Author 2
| Last name | CAKAR OZDAL |
| Initials of first name(s) | P |
| Department | Ulucanlar Eye Training and Research Hospital |
| City | Ankara |
| Country | Turkey |
