Fig. 1

Clinical examination results of proband. A Color fundus image of proband's left eye. Diffuse patchy hemorrhages in the retina, and obvious earthworm-like tortuosity of the veins. Three retinal hemangioblastomas (white arrows) were found in the peripheral retina, all about 1 PD in size. B Color fundus image of proband's right eye. There is no obvious abnormality. C FFA image of proband's left eye. A high fluorescence lesion (white arrow) with the size of 1.5 PD were found. A thick and tortuous nourishing blood vessel is connected to it. Hemorrhage on the lower side of the lesion obscured fluorescence. Fluorescent leakage and staining of retinal veins. D FFA image of proband's left eye. Fluorescent leakage and staining of retinal veins. A high fluorescence lesion on the left side of the image. Non-perfusion areas were fund in the retina on the right and lower sides of the image (white arrows). E FFA late phase image. FFA of the left eye showed tortuous dilation of retinal vein, fluorescein staining of optic disc and retinal vein vessels, and flower-petal appearance of the leakage at the macula. F OCT image of proband's left eye. The retinal thickness in the macular area increased, and dark fluid-filled cyst inside the retina. G MRI image of proband's abdomen. A huge tumor (white arrow) was found in the right anterior lobe of liver with a size of 15.6 cm*11.4 cm, and the boundary with surrounding normal liver tissue was unclear (the white dotted line marks its approximate range). Snowflake enhancement was found in the tumor under enhanced scanning, and the spleen was obviously enlarged. H MRI image of proband's brain. A low signal area was found in the right temporal lobe with a size of 3 cm*2 cm (the white dotted line marks its approximate range, white arrow). I Bone marrow smear showed that nucleated cells proliferated actively, granulocyte: erythroid = 4.24:1, granulocyte: lobulated nuclear granulocyte ratio increased significantly, erythroid: proliferation was dominated by middle and late young erythrocytes, mature erythrocytes were distributed in accumulation, lymphocyte: ratio decreased, cell morphology was not significantly abnormal, combined with blood routine results: wbc12.99 × 109/L、RBC9.55 × 1012 / L, that is consistent with the diagnosis of polycythemia