Update on the genetics of corneal endothelial dystrophies.
Kannabiran C, Chaurasia S, Ramappa M, Mootha VV.
Indian J Ophthalmol. 2022 Jul;70(7):2239-2248. doi: 10.4103/ijo.IJO_992_22.
[Corneal dystrophies].
Bourges JL.
J Fr Ophtalmol. 2017 Sep;40(7):606-621. doi: 10.1016/j.jfo.2017.02.004. Epub 2017 Jun 15.
Diseases of the corneal endothelium.
Jeang LJ, Margo CE, Espana EM.
Exp Eye Res. 2021 Apr;205:108495. doi: 10.1016/j.exer.2021.108495. Epub 2021 Feb 14.
Genetics of the corneal endothelial dystrophies: an evidence-based review.
Aldave AJ, Han J, Frausto RF.
Clin Genet. 2013 Aug;84(2):109-19. doi: 10.1111/cge.12191. Epub 2013 Jun 10.
Mice with a targeted disruption of Slc4a11 model the progressive corneal changes of congenital hereditary endothelial dystrophy.
Han SB, Ang HP, Poh R, Chaurasia SS, Peh G, Liu J, Tan DT, Vithana EN, Mehta JS.
Invest Ophthalmol Vis Sci. 2013 Sep 27;54(9):6179-89. doi: 10.1167/iovs.13-12089.
Congenital hereditary endothelial dystrophy caused by SLC4A11 mutations progresses to Harboyan syndrome.
Siddiqui S, Zenteno JC, Rice A, Chacón-Camacho O, Naylor SG, Rivera-de la Parra D, Spokes DM, James N, Toomes C, Inglehearn CF, Ali M.
Cornea. 2014 Mar;33(3):247-51. doi: 10.1097/ICO.0000000000000041.
Corneal dystrophy-causing SLC4A11 mutants: suitability for folding-correction therapy.
Loganathan SK, Casey JR.
Hum Mutat. 2014 Sep;35(9):1082-91. doi: 10.1002/humu.22601. Epub 2014 Jun 28.
Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11.
Kim JH, Ko JM, Tchah H.
Ophthalmic Genet. 2015;36(3):284-6. doi: 10.3109/13816810.2014.881510.
Energy Shortage in Human and Mouse Models of SLC4A11-Associated Corneal Endothelial Dystrophies.
Zhang W, Frausto R, Chung DD, Griffis CG, Kao L, Chen A, Azimov R, Sampath AP, Kurtz I, Aldave AJ.
Invest Ophthalmol Vis Sci. 2020 Jul 1;61(8):39. doi: 10.1167/iovs.61.8.39.
Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11.
Jiao X, Sultana A, Garg P, Ramamurthy B, Vemuganti GK, Gangopadhyay N, Hejtmancik JF, Kannabiran C.
J Med Genet. 2007 Jan;44(1):64-8. doi: 10.1136/jmg.2006.044644. Epub 2006 Jul 6.
