References
- Weiss JS, Møller HU, Aldave AJ, Seitz B, Bredrup C, Kivelä T, Munier FL, Rapuano CJ, Nischal KK, Kim EK. IC3D classification of corneal dystrophies—edition 2. Cornea. 2015;34(2):117–59. doi:10.1097/ICO.0000000000000307.
- Kim NH, Kim MS. The clinical features and progression of the disease in posterior polymorphous corneal dystrophy (PPCD). J Korean Ophthalmol Soc. 2014;55(3):368–73. doi:10.3341/jkos.2014.55.3.368.
- Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–23. doi:10.1038/gim.2015.30.
- Lechner J, Dash DP, Muszynska D, Hosseini M, Segev F, George S, Frazer DG, Moore JE, Kaye SB, Young T. Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype–phenotype correlation. Investig Ophthalmol Vis Sci. 2013;54(5):3215–23. doi:10.1167/iovs.13-11781.
- EyeWiki. AAoO. Posterior polymorphous corneal dystrophy. 2020 Dec 20.
- Frausto RF, Chung DD, Boere PM, Swamy VS, Duong HN, Kao L, Azimov R, Zhang W, Carrigan L, Wong D. ZEB1 insufficiency causes corneal endothelial cell state transition and altered cellular processing. PLoS One. 2019;14(6):e0218279. doi:10.1371/journal.pone.0218279.
- Chung DD, Frausto RF, Cervantes AE, Gee KM, Zakharevich M, Hanser EM, Stone EM, Heon E, Aldave AJ, Janecke AR. Confirmation of the OVOL2 promoter mutation c.-307t> C in posterior polymorphous corneal dystrophy 1. PLoS One. 2017;12(1):e0169215. doi:10.1371/journal.pone.0169215.
- Krafchak CM, Pawar H, Moroi SE, Sugar A, Lichter PR, Mackey DA, Mian S, Nairus T, Elner V, Schteingart MT. Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Genet. 2005;77(5):694–708. doi:10.1086/497348.
- Shimizu S, Krafchak C, Fuse N, Epstein MP, Schteingart MT, Sugar A, Eibschitz‐tsimhoni M, Downs CA, Rozsa F, Trager EH. A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10. Am J Med Genet A. 2004;130(4):372–77. doi:10.1002/ajmg.a.30267.
- Liskova P, Palos M, Hardcastle AJ, Vincent AL. Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3. JAMA Ophthalmol. 2013;131(10):1296–303. doi:10.1001/jamaophthalmol.2013.405.
- Jeon HS, Hyon JY. Unilateral posterior polymorphous corneal dystrophy presented as anisometropic astigmatism: 3 case reports. Case Rep Ophthalmol. 2017;8(1):250–58. doi:10.1159/000472704.