Familial Mediterranean fever (FMF) is a hereditary auto-inflammatory disease with accompanying findings of amyloidosis and vasculitis. M694V is one of the most common mutations associated with amyloidosis. This study compared the macular optical coherence tomography angiography measurements in FMF patients who were genetically verified to carry the M694V mutation of the MEFV gene to those in healthy controls. The vessel densities (VDs) of superficial (SVP) and deep vascular plexus (DVP) of the retina, and choriocapillaris, foveal avascular zone (FAZ) perimetry, foveal VD 300µ around the FAZ (FD-300), acirculatory index (AI) and non-flow area were measured with optical coherence tomography angiography (OCT-A). The FMF and control groups were matched for age and gender. Compound heterozygous pathogenic variants were excluded. Thirty-eight FMF patients with M694V mutations (28 heterozygous and 10 homozygous) and 40 healthy controls were included. The two groups were similar with the regard to age and gender (P=0.88 and P=0.49, respectively). None of the investigated parameters, including the vessel densities of the SVP and DVP, and choriocapillaris, FAZ perimetry, FD-300, AI, and non-flow area showed a statistically significant difference between the FMF and control groups. The macular vessel density measurements and FAZ parameters of FMF patients with M694V mutations do not differ from age- and sex-matched healthy controls.

家族性地中海热（FMF）是一种遗传性自发性疾病，伴有淀粉样变性和血管炎。M694V是与淀粉样变性有关的最常见突变之一。这项研究比较了FMF患者的黄斑光学相干断层扫描血管造影测量结果，这些患者已通过基因检查证实携带MEFV基因的M694V突变与健康对照者。视网膜浅表（SVP）和深层血管丛（DVP）的血管密度（VDs），脉络膜毛细血管，中心凹无血管区域（FAZ）视野检查，中心凹VD 300µ FAZ（FD-300），循环指数（AI）通过光学相干断层扫描血管造影（OCT-A）测量非流区。FMF和对照组的年龄和性别相匹配。排除了复合杂合的致病变体。包括38个M694V突变的FMF患者（28个杂合子和10个纯合子）和40个健康对照。两组在年龄和性别方面相似（P = 0.88和P = 0.49）。FMF组和对照组之间的任何调查参数（包括SVP和DVP的血管密度，脉络膜毛细血管，FAZ视野检查，FD-300，AI和非流动面积）均未显示出统计学上的显着差异。具有M694V突变的FMF患者的黄斑血管密度测量和FAZ参数与年龄和性别匹配的健康对照组没有差异。