Fig. 3

Ophthalmic findings and neuropathology. a Funduscope and FFA of the proband (III-7). Vascular sheathing was shown by the blue arrow. Vein tortuosity was shown by the yellow arrow. Perivascular fluorescein leakage and hyper-fluorescence of vessel walls were shown by yellow arrowheads. Non-perfusion area was shown by the red asterisk. Microbleeds were shown by white arrows. b OCT results of patient 2 (III-1). Cystoid intraretinal fluid pockets were shown by the yellow asterisk. c Neuropathology and immunostaining of patient 3 (III-4). Neuropathology demonstrated focal necrosis, gliosis, lumen stenosis, and lymphocytic infiltration within the vessel wall (100×). Immunostaining was positive for GFAP, Olig2, CD3, CD20, CD68, and CD138, and negative for Ki67, P53, IDH1, PAX-5, IgG, and IgG4. Specific stain by Congo red was negative