Classic lattice corneal dystrophy: a brief review and summary of treatment modalities

Author:

Milovanova EkaterinaORCID,Gomon StanislavORCID,Rocha GuillermoORCID

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference96 articles.

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2. Munier FL, Frueh BE, Othenin-Girard P, Uffer S, Cousin P, Wang MX, Heon E, Black GC, Blasi MA, Balestrazzi E, Lorenz B, Escoto R, Barraquer R, Hoeltzenbein M, Gloor B, Fossarello M, Singh AD, Arsenijevic Y, Zografos L, Schorderet DF (2002) BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci 43:949–954

3. Kheir V, Cortes-Gonzalez V, Zenteno JC, Schorderet DF (2019) Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies. Hum Mutat 40:675–693. https://doi.org/10.1002/humu.23737

4. Fukuoka H, Kawasaki S, Yamasaki K, Matsuda A, Fukumoto A, Murakami A, Kinoshita S (2010) Lattice corneal dystrophy type IV (p.Leu527Arg) is caused by a founder mutation of the TGFBI gene in a single Japanese ancestor. Invest Ophthalmol Vis Sci 51:4523–4530. https://doi.org/10.1167/iovs.10-5343

5. Runager K, Basaiawmoit RV, Deva T, Andreasen M, Valnickova Z, Sorensen CS, Karring H, Thogersen IB, Christiansen G, Underhaug J, Kristensen T, Nielsen NC, Klintworth GK, Otzen DE, Enghild JJ (2011) Human phenotypically distinct TGFBI corneal dystrophies are linked to the stability of the fourth FAS1 domain of TGFBIp. J Biol Chem 286:4951–4958. https://doi.org/10.1074/jbc.M110.181099

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