Skip to main content
Fig. 3 | Acta Neuropathologica Communications

Fig. 3

From: NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment

Fig. 3

NIID Histopathological findings of ophthalmic organs. Case 1 (A–G, K–L, and N) and Case 2 (H–J and M) findings. A–J: Immunohistopathological study with anti-p62 antibody. A The horizontal section of the optic nerve. The right side is temporal. The area surrounded by the green square labeled B is magnified in Fig. 2B, the area surrounded by the blue square labeled F is magnified in Fig. 2F, and the area surrounded by the yellow square labeled G is magnified in Fig. 2G. B–E: B: Low magnification finding of the retina. The areas of the red squares labeled as C, D, and E are magnified in Figs. 2C, D, 2E respectively. C and H: Retinal ganglion cell layer (GCL). D and I: Inner nuclear layer (INL). E: Outer nuclear layer (ONL). F and J: Retinal pigment epithelium cells. Red arrow showed intranuclear inclusions of pigment epithelial cells. G: Optic nerve. K–N: Electric microscope findings. A higher magnification of the intranuclear inclusion is shown in the upper right corner of each figure. K: Inner nuclear layer. L–M: Retinal pigment epithelium cell. N: Glial cell in the optic nerve. p-62 positive intranuclear inclusions were observed in the retinal ganglion cells, cells in the inner nuclear layer and outer nuclear layer, and photoreceptor cells in the retina, and retinal pigment epithelium cells and glial cells in the optic nerve. These intranuclear inclusions were composed of fine filaments and without limiting membrane. Scale bars: A: 200 μm, B: 10 μm, C–E: 5 μm, F–J:10 μm, and K–N: 2.0 μm

Back to article page