© Yan et al. Niemann-Pick type C1 (NPC1) disease is an inherited lysosomal storage disease caused by mutation of the gene, resulting in a progressive accumulation of unesterified cholesterol and glycolipids in lysosomes of multiple tissues and leading to neurodegeneration and other disease. In Npc1 mutant mice, retinal degeneration including impaired visual function, lipofuscin accumulation in the pigment epithelium and ganglion cells as well as photoreceptor defects has been found. However, the pathologies of other individual cell types of the retina in Npc1 mutant mice are still not fully clear. We hypothesized that horizontal cells, amacrine cells, bipolar cells and glial cells are also affected in the retina of Npc1 mutant mice. Results: Immunohistochemistry and electron microscopy were used to investigate pathologies of ganglion cells, horizontal cells, amacrine cells, bipolar cells, and optic nerves as well as altered activity of glial cells in Npc1 mutant mice. Conclusions: Our data extend previous findings to show multiple defects in the retina of Npc1 mutant mice, suggesting an important role of Npc1 protein in the normal function of the retina.
Yan, X., Ma, L., Hovakimyan, M., Lukas, J., Wree, A., Frank, M., … Luo, J. (2014). Defects in the retina of Niemann-pick type C 1 mutant mice. BMC Neuroscience, 15(1). https://doi.org/10.1186/s12868-014-0126-2