1. Musch DC, Niziol LM, Stein JD, Kamyar RM, Sugar A. Prevalence of corneal dystrophies in the United States: estimates from claims data. Invest Ophthalmol Vis Sci. 2011;52(9):6959-63.
2. Stone EM, Mathers WD, Rosenwasser GO, Holland EJ, Folberg R, Krachmer JH, et al. Three autosomal dominant corneal dystrophies map to chromosome 5q. Nat Genet. 1994;6(1):47-51.
3. Afshari NA, Bahadur RP, Eifrig DE, Jr., Thogersen IB, Enghild JJ, Klintworth GK. Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene. Mol Vis. 2008;14:495-9.
4. Aggarwal S, Peck T, Golen J, Karcioglu ZA. Macular corneal dystrophy: A review. Survey of ophthalmology. 2018;63(5):609-17.
5. Weiss JS, Moller HU, Aldave AJ, Seitz B, Bredrup C, Kivela T, et al. IC3D classification of corneal dystrophies--edition 2. Cornea. 2015;34(2):117-59.
6. Bourges JL. [Corneal dystrophies]. J Fr Ophtalmol. 2017;40(7):606-21.
7. Kheir V, Cortes-Gonzalez V, Zenteno JC, Schorderet DF. Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies. Hum Mutat. 2019;40(6):675-93.
8. Bouyacoub Y, Falfoul Y, Ouederni M, Sayeb M, Chedli A, Chargui M, et al. Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene. Ophthalmic Genet. 2019;40(4):329-37.
9. Kattan JM, Serna-Ojeda JC, Sharma A, Kim EK, Ramirez-Miranda A, Cruz-Aguilar M, et al. Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI. Cornea. 2017;36(2):210-6.
10. Oldak M, Szaflik JP, Sciezynska A, Udziela M, Maksym RB, Rymgayllo-Jankowska B, et al. Late-onset lattice corneal dystrophy without typical lattice lines caused by a novel mutation in the TGFBI gene. Cornea. 2014;33(3):294-9.
11. Zhang T, Yan N, Yu W, Liu Y, Liu G, Wu X, et al. Molecular genetics of Chinese families with TGFBI corneal dystrophies. Mol Vis. 2011;17:380-7.
12. Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, et al. Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). Nat Genet. 2006;38(7):755-7.
13. Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, et al. Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. Hum Mol Genet. 2001;10(21):2415-23.
14. Aldave AJ, Gutmark JG, Yellore VS, Affeldt JA, Meallet MA, Udar N, et al. Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. Am J Ophthalmol. 2004;138(5):772-81.
15. Song JS, Lim DH, Chung ES, Chung TY, Ki CS. Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies. Ann Lab Med. 2015;35(3):336-40.
16. Hao XD, Zhang YY, Chen P, Li SX, Wang Y. Uncovering the profile of mutations of transforming growth factor beta-induced gene in Chinese corneal dystrophy patients. Int J Ophthalmol. 2016;9(2):198-203.
17. Thiel HJ, Behnke H. [A hitherto unknown subepithelial hereditary corneal dystrophy]. Klin Monbl Augenheilkd. 1967;150(6):862-74.
18. Mashima Y, Nakamura Y, Noda K, Konishi M, Yamada M, Kudoh J, et al. A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy. Arch Ophthalmol. 1999;117(1):90-3.
19. Hammar B, Lagali N, Ek S, Seregard S, Dellby A, Fagerholm P. Dystrophia Smolandiensis: a novel morphological picture of recurrent corneal erosions. Acta Ophthalmol. 2010;88(4):394-400.
20. Xiang Q, Yuan L, Cao Y, Xu H, Li Y, Deng H. Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy. J Ophthalmol. 2019;2019:2824179.
21. Yu Y, Qiu P, Zhu Y, Li J, Wu M, Zhang B, et al. A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree. BMC Ophthalmol. 2015;15:131.
22. Munier FL, Frueh BE, Othenin-Girard P, Uffer S, Cousin P, Wang MX, et al. BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci. 2002;43(4):949-54.
23. Zhao XC, Nakamura H, Subramanyam S, Stock LE, Gillette TE, Yoshikawa S, et al. Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy. Ophthalmology. 2007;114(11):e39-46.
24. Han YP, Sim AJ, Vora SC, Huang AJ. A unique TGFBI protein in granular corneal dystrophy types 1 and 2. Curr Eye Res. 2012;37(11):990-6.
25. Gruenauer-Kloevekorn C, Clausen I, Weidle E, Wolter-Roessler M, Tost F, Volcker HE, et al. TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings. Br J Ophthalmol. 2009;93(7):932-7.
26. Courtney DG, Poulsen ET, Kennedy S, Moore JE, Atkinson SD, Maurizi E, et al. Protein Composition of TGFBI-R124C- and TGFBI-R555W-Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy. Invest Ophthalmol Vis Sci. 2015;56(8):4653-61.
27. Lakshminarayanan R, Chaurasia SS, Anandalakshmi V, Chai SM, Murugan E, Vithana EN, et al. Clinical and genetic aspects of the TGFBI-associated corneal dystrophies. Ocul Surf. 2014;12(4):234-51.
28. Kannabiran C, Klintworth GK. TGFBI gene mutations in corneal dystrophies. Hum Mutat. 2006;27(7):615-25.
29. Korvatska E, Munier FL, Chaubert P, Wang MX, Mashima Y, Yamada M, et al. On the role of kerato-epithelin in the pathogenesis of 5q31-linked corneal dystrophies. Invest Ophthalmol Vis Sci. 1999;40(10):2213-9.
30. Paliwal P, Sharma A, Tandon R, Sharma N, Titiyal JS, Sen S, et al. TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies. Mol Vis. 2010;16:1429-38.
31. Runager K, Basaiawmoit RV, Deva T, Andreasen M, Valnickova Z, Sorensen CS, et al. Human phenotypically distinct TGFBI corneal dystrophies are linked to the stability of the fourth FAS1 domain of TGFBIp. J Biol Chem. 2011;286(7):4951-8.
32. Evans CJ, Davidson AE, Carnt N, Rojas Lopez KE, Veli N, Thaung CM, et al. Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy. Invest Ophthalmol Vis Sci. 2016;57(13):5407-14.