Figures & data
Table 1. Alterations in autophagy-related genes linked to eye diseases
Table 2. Summary of the Proposed Roles of Autophagy in Eye Tissues and Autophagy Status in Disease
Table 3. Major Eye Phenotypes of Mouse Models with Modulated Autophagy Activity
McWilliams TG, Prescott AR, Villarejo-Zori B, et al. A comparative map of macroautophagy and mitophagy in the vertebrate eye. Autophagy. 2019 Jul;15(7):1296–1308. Satoh K, Takemura Y, Satoh M, et al. Loss of FYCO1 leads to cataract formation. Sci Rep. 2021 Jul 2;11(1):13771. Zhou Y, Bennett TM, Shiels A. A charged multivesicular body protein (CHMP4B) is required for lens growth and differentiation. Differentiation. 2019 Sep - Oct;109:16–27. Cullup T, Kho AL, Dionisi-Vici C, et al. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet. 2013 Jan;45(1):83–7. Sidjanin DJ, Park AK, Ronchetti A, et al. TBC1D20 mediates autophagy as a key regulator of autophagosome maturation. Autophagy. 2016 Oct 2;12(10):1759–1775. Tu C, Li H, Liu X, et al. TDRD7 participates in lens development and spermiogenesis by mediating autophagosome maturation. Autophagy. 2021 Nov;17(11):3848–3864. Chen JH, Huang C, Zhang B, et al. Mutations of RagA GTPase in mTORC1 Pathway Are Associated with Autosomal Dominant Cataracts. PLoS Genet. 2016 Jun;12(6):e1006090. Mei S, Wu Y, Wang Y, et al. Disruption of PIKFYVE causes congenital cataract in human and zebrafish. Elife. 2022 Jan 13;11. Kotoulas A, Kokotas H, Kopsidas K, et al. A novel PIKFYVE mutation in fleck corneal dystrophy. Mol Vis. 2011;17:2776–81. Ping X, Liang J, Shi K, et al. Rapamycin relieves the cataract caused by ablation of Gja8b through stimulating autophagy in zebrafish. Autophagy. 2021 Nov;17(11):3323–3337. Russo R, Berliocchi L, Adornetto A, et al. Calpain-mediated cleavage of Beclin-1 and autophagy deregulation following retinal ischemic injury in vivo. Cell Death Dis. 2011 Apr 14;2(4):e144. Bell K, Rosignol I, Sierra-Filardi E, et al. Age related retinal Ganglion cell susceptibility in context of autophagy deficiency. Cell Death Discov. 2020;6:21. Fimia GM, Stoykova A, Romagnoli A, et al. Ambra1 regulates autophagy and development of the nervous system. Nature. 2007 Jun 28;447(7148):1121–5. Ramirez-Pardo I, Villarejo-Zori B, Jimenez-Loygorri JI, et al. Ambra1 haploinsufficiency in CD1 mice results in metabolic alterations and exacerbates age-associated retinal degeneration. Autophagy. 2022 Jul 24:1–21. Rodríguez-Muela N, Germain F, Mariño G, et al. Autophagy promotes survival of retinal ganglion cells after optic nerve axotomy in mice. Cell Death Differ. 2012 Jan;19(1):162–9. Morishita H, Eguchi S, Kimura H, et al. Deletion of autophagy-related 5 (Atg5) and Pik3c3 genes in the lens causes cataract independent of programmed organelle degradation. J Biol Chem. 2013 Apr 19;288(16):11436–47. Zhang Y, Cross SD, Stanton JB, et al. Early AMD-like defects in the RPE and retinal degeneration in aged mice with RPE-specific deletion of Atg5 or Atg7. Mol Vis. 2017;23:228241. Zhou Z, Vinberg F, Schottler F, et al. Autophagy supports color vision. Autophagy. 2015;11(10):1821–32. Zhou Z, Doggett TA, Sene A, et al. Autophagy supports survival and phototransduction protein levels in rod photoreceptors. Cell Death Differ. 2015 Mar;22(3):488–98. Kaplan N, Wang J, Wray B, et al. Single-Cell RNA Transcriptome Helps Define the Limbal/Corneal Epithelial Stem/Early Transit Amplifying Cells and How Autophagy Affects This Population. Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3570–3583. Nettesheim A, Dixon A, Shim MS, et al. Autophagy in the Aging and Experimental Ocular Hypertensive Mouse Model. Invest Ophthalmol Vis Sci. 2020 Aug 3;61(10):31. Hirt J, Porter K, Dixon A, et al. Contribution of autophagy to ocular hypertension and neurodegeneration in the DBA/2J spontaneous glaucoma mouse model. Cell Death Discov. 2018;4:14. Dhingra A, Alexander D, Reyes-Reveles J, et al. Microtubule-Associated Protein 1 Light Chain 3 (LC3) Isoforms in RPE and Retina. Adv Exp Med Biol. 2018;1074:609–616. Dhingra A, Bell BA, Peachey NS, et al. Microtubule-Associated Protein 1 Light Chain 3B, (LC3B) Is Necessary to Maintain Lipid-Mediated Homeostasis in the Retinal Pigment Epithelium. Front Cell Neurosci. 2018;12:351. Chi ZL, Akahori M, Obazawa M, et al. Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice. Hum Mol Genet. 2010 Jul 1;19(13):2606–15.