Corneal dystrophies.
Journal
Nature reviews. Disease primers
ISSN: 2056-676X
Titre abrégé: Nat Rev Dis Primers
Pays: England
ID NLM: 101672103
Informations de publication
Date de publication:
11 06 2020
11 06 2020
Historique:
accepted:
24
04
2020
entrez:
13
6
2020
pubmed:
13
6
2020
medline:
10
4
2021
Statut:
epublish
Résumé
Corneal dystrophies are broadly defined as inherited disorders that affect any layer of the cornea and are usually progressive, bilateral conditions that do not have systemic effects. The 2015 International Classification of Corneal Dystrophies classifies corneal dystrophies into four classes: epithelial and subepithelial dystrophies, epithelial-stromal TGFBI dystrophies, stromal dystrophies and endothelial dystrophies. Whereas some corneal dystrophies may result in few or mild symptoms and morbidity throughout a patient's lifetime, others may progress and eventually result in substantial visual and ocular disturbances that require medical or surgical intervention. Corneal transplantation, either with full-thickness or partial-thickness donor tissue, may be indicated for patients with advanced corneal dystrophies. Although corneal transplantation techniques have improved considerably over the past two decades, these surgeries are still associated with postoperative risks of disease recurrence, graft failure and other complications that may result in blindness. In addition, a global shortage of cadaveric corneal graft tissue critically limits accessibility to corneal transplantation in some parts of the world. Ongoing advances in gene therapy, regenerative therapy and cell augmentation therapy may eventually result in the development of alternative, novel treatments for corneal dystrophies, which may substantially improve the quality of life of patients with these disorders.
Identifiants
pubmed: 32528047
doi: 10.1038/s41572-020-0178-9
pii: 10.1038/s41572-020-0178-9
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
46Références
Qazi, Y., Wong, G., Monson, B., Stringham, J. & Ambati, B. K. Corneal transparency: genesis, maintenance and dysfunction. Brain Res. Bull. 81, 198–210 (2010).
pubmed: 19481138
doi: 10.1016/j.brainresbull.2009.05.019
Maurice, D. M. The structure and transparency of the cornea. J. Physiol. 136, 263–286 (1957).
pubmed: 13429485
pmcid: 1358888
doi: 10.1113/jphysiol.1957.sp005758
DelMonte, D. W. & Kim, T. Anatomy and physiology of the cornea. J. Cataract Refract. Surg. 37, 588–598 (2011).
pubmed: 21333881
doi: 10.1016/j.jcrs.2010.12.037
Weiss, J. S. Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis). Trans. Am. Ophthalmol. Soc. 105, 616–648 (2007). The largest collection of SCD cases published to date.
pubmed: 18427632
pmcid: 2258126
Weiss, J. S. et al. IC3D classification of corneal dystrophies — edition 2. Cornea 34, 117–159 (2015). This manuscript describes the latest classification system for corneal dystrophies, published and endorsed by the Cornea Society.
pubmed: 25564336
doi: 10.1097/ICO.0000000000000307
Soh, Y. Q. et al. Predicative factors for corneal endothelial cell migration. Investig. Ophthalmol. Vis. Sci. 57, 338 (2016).
doi: 10.1167/iovs.15-18300
Soh, Y. Q. & Mehta, J. S. Regenerative therapy for Fuchs endothelial corneal dystrophy. Cornea 37, 523–527 (2018).
pubmed: 29384808
doi: 10.1097/ICO.0000000000001518
Bhogal, M., Lwin, C. N., Seah, X.-Y., Peh, G. & Mehta, J. S. Allogeneic Descemet’s membrane transplantation enhances corneal endothelial monolayer formation and restores functional integrity following Descemet’s stripping. Invest. Ophthalmol. Vis. Sci. 58, 4249–4260 (2017).
pubmed: 28850636
doi: 10.1167/iovs.17-22106
Peh, G. S. L. et al. Functional evaluation of two corneal endothelial cell-based therapies: tissue-engineered construct and cell injection. Sci. Rep. 9, 6087 (2019).
pubmed: 30988373
pmcid: 6465252
doi: 10.1038/s41598-019-42493-3
Kinoshita, S. et al. Injection of cultured cells with a ROCK inhibitor for bullous keratopathy. N. Engl. J. Med. 378, 995–1003 (2018). First-in-human trial describing the successful treatment of bullous keratopathy, including cases of FECD, with intracameral injection of cultivated human corneal endothelial cells.
pubmed: 29539291
doi: 10.1056/NEJMoa1712770
Yam, G. H.-F. et al. Safety and feasibility of intrastromal injection of cultivated human corneal stromal keratocytes as cell-based therapy for corneal opacities. Invest. Ophthalmol. Vis. Sci. 59, 3340–3354 (2018).
pubmed: 30025076
doi: 10.1167/iovs.17-23575
Peh, G. S. L. et al. Regulatory compliant tissue-engineered human corneal endothelial grafts restore corneal function of rabbits with bullous keratopathy. Sci. Rep. 7, 14149 (2017).
pubmed: 29074873
pmcid: 5658403
doi: 10.1038/s41598-017-14723-z
Mehta, J. S., Kocaba, V. & Soh, Y. Q. The future of keratoplasty: cell-based therapy, regenerative medicine, bioengineering keratoplasty, gene therapy. Curr. Opin. Ophthalmol. 30, 286–291 (2019).
pubmed: 31045881
doi: 10.1097/ICU.0000000000000573
Soh, Y. Q. et al. Trinucleotide repeat expansion length as a predictor of the clinical progression of Fuchs’ endothelial corneal dystrophy. PLoS One 14, e0210996 (2019).
pubmed: 30682148
pmcid: 6347165
doi: 10.1371/journal.pone.0210996
Taketani, Y. et al. Repair of the TGFBI gene in human corneal keratocytes derived from a granular corneal dystrophy patient via CRISPR/Cas9-induced homology-directed repair. Sci. Rep. 7, 16713 (2017).
pubmed: 29196743
pmcid: 5711889
doi: 10.1038/s41598-017-16308-2
Boutboul, S. et al. A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3. Hum. Mutat. 27, 553–557 (2006).
pubmed: 16652336
doi: 10.1002/humu.20331
Reidy, J. J., Paulus, M. P. & Gona, S. Recurrent erosions of the cornea: epidemiology and treatment. Cornea 19, 767–771 (2000).
pubmed: 11095047
doi: 10.1097/00003226-200011000-00001
Suri, K. et al. Demographic patterns and treatment outcomes of patients with recurrent corneal erosions related to trauma and epithelial and Bowman layer disorders. Am. J. Ophthalmol. 156, 1082–1087.e2 (2013).
pubmed: 24075431
doi: 10.1016/j.ajo.2013.07.022
Waring, G. O., Rodrigues, M. M. & Laibson, P. R. Corneal dystrophies. I. Dystrophies of the epithelium, Bowman’s layer and stroma. Surv. Ophthalmol. 23, 71–122 (1978).
pubmed: 360456
doi: 10.1016/0039-6257(78)90090-5
Werblin, T. P., Hirst, L. W., Stark, W. J. & Maumenee, I. H. Prevalence of map-dot-fingerprint changes in the cornea. Br. J. Ophthalmol. 65, 401–409 (1981).
pubmed: 7260010
pmcid: 1039533
doi: 10.1136/bjo.65.6.401
Bozkurt, B. & Irkec, M. In vivo laser confocal microscopic findings in patients with epithelial basement membrane dystrophy. Eur. J. Ophthalmol. 19, 348–354 (2009).
pubmed: 19396777
doi: 10.1177/112067210901900304
Kaza, H., Barik, M. R., Reddy, M. M., Mittal, R. & Das, S. Gelatinous drop-like corneal dystrophy: a review. Br. J. Ophthalmol. 101, 10–15 (2017).
pubmed: 27913443
doi: 10.1136/bjophthalmol-2016-309555
Fujiki, K., Nakayasu, K. & Kanai, A. Corneal dystrophies in Japan. J. Hum. Genet. 46, 431–435 (2001).
pubmed: 11501939
doi: 10.1007/s100380170041
Kawasaki, S. & Kinoshita, S. Clinical and basic aspects of gelatinous drop-like corneal dystrophy. Dev. Ophthalmol. 48, 97–115 (2011).
pubmed: 21540633
doi: 10.1159/000324079
Song, Y. et al. Prevalence of transforming growth factor β-induced gene corneal dystrophies in Chinese refractive surgery candidates. J. Cataract Refract. Surg. 43, 1489–1494 (2017).
pubmed: 29233738
doi: 10.1016/j.jcrs.2017.07.038
Mashima, Y. et al. Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan. Am. J. Ophthalmol. 130, 516–517 (2000).
pubmed: 11024425
doi: 10.1016/S0002-9394(00)00571-7
Cho, K. J. et al. TGFBI gene mutations in a Korean population with corneal dystrophy. Mol. Vis. 18, 2012–2021 (2012).
pubmed: 22876129
pmcid: 3413419
Lee, J. H. et al. Prevalence of granular corneal dystrophy type 2 (Avellino corneal dystrophy) in the Korean population. Ophthalmic Epidemiol. 17, 160–165 (2010).
pubmed: 20455845
doi: 10.3109/09286581003624939
Musch, D. C., Niziol, L. M., Stein, J. D., Kamyar, R. M. & Sugar, A. Prevalence of corneal dystrophies in the united states: estimates from claims data. Invest. Ophthalmol. Vis. Sci. 52, 6959–6963 (2011).
pubmed: 21791583
pmcid: 3175990
doi: 10.1167/iovs.11-7771
Chao-Shern, C. et al. Evaluation of TGFBI corneal dystrophy and molecular diagnostic testing. Eye 33, 874–881 (2019).
pubmed: 30760895
pmcid: 6707296
doi: 10.1038/s41433-019-0346-x
Munier, F. L. et al. BIGH3 mutation spectrum in corneal dystrophies. Invest. Ophthalmol. Vis. Sci. 43, 949–954 (2002).
pubmed: 11923233
Han, K. E. et al. Pathogenesis and treatments of TGFBI corneal dystrophies. Prog. Retinal Eye Res. 50, 67–88 (2016).
doi: 10.1016/j.preteyeres.2015.11.002
Kheir, V., Cortés-González, V., Zenteno, J. C. & Schorderet, D. F. Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies. Hum. Mutat. 40, 675–693 (2019).
pubmed: 30830990
doi: 10.1002/humu.23737
Munier, F. L. et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat. Genet. 15, 247–251 (1997).
pubmed: 9054935
doi: 10.1038/ng0397-247
Pampukha, V. M., Drozhyna, G. I. & Livshits, L. A. TGFBI gene mutation analysis in families with hereditary corneal dystrophies from Ukraine. OPH 218, 411–414 (2004).
Al-Arfai, K. M., Yassin, S. A., Al-Beshri, A. S., Al-Jindan, M. Y. & Al-Tamimi, E. R. Indications and techniques employed for keratoplasty in the Eastern province of Saudi Arabia: 6 years of experience. Ann. Saudi Med. 35, 387–393 (2015).
pubmed: 26506973
pmcid: 6074371
doi: 10.5144/0256-4947.2015.387
Eye Bank Association of America. 2018 Eye Banking Statistical Report 1–108 (Eye Bank Association of America, 2019).
Eye Bank Association of America. 2016 Eye Banking Statistical Report 1–99 (Eye Bank Association of America, 2016).
Saadat, M., Ansari-Lari, M. & Farhud, D. D. Consanguineous marriage in Iran. Ann. Hum. Biol. 31, 263–269 (2004).
pubmed: 15204368
doi: 10.1080/03014460310001652211
Zare, M. et al. Changing indications and surgical techniques for corneal transplantation between 2004 and 2009 at a tertiary referral center. Middle East Afr. J. Ophthalmol. 19, 323–329 (2012).
pubmed: 22837628
pmcid: 3401804
doi: 10.4103/0974-9233.97941
Zare, M. et al. Indications for corneal transplantation at a tertiary referral center in Tehran. J. Ophthalmic Vis. Res. 5, 82–86 (2010).
pubmed: 22737335
pmcid: 3380679
Yaylacioglu Tuncay, F. et al. Genetic analysis of CHST6 and TGFBI in Turkish patients with corneal dystrophies: five novel variations in CHST6. Mol. Vis. 22, 1267–1279 (2016).
pubmed: 27829782
pmcid: 5082643
Warren, J. F. et al. Novel mutations in the CHST6 gene associated with macular corneal dystrophy in Southern India. Arch. Ophthalmol. 121, 1608–1612 (2003).
pubmed: 14609920
doi: 10.1001/archopht.121.11.1608
Sultana, A., Klintworth, G. K., Thonar, E. J.-M. A., Vemuganti, G. K. & Kannabiran, C. Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6. Mol. Vis. 15, 319–325 (2009).
pubmed: 19204788
pmcid: 2635850
Jonasson, F., Johannsson, J. H., Garner, A. & Rice, N. S. Macular corneal dystrophy in Iceland. Eye 3 (Pt 4), 446–454 (1989).
pubmed: 2606219
doi: 10.1038/eye.1989.66
Jonasson, F. et al. Macular corneal dystrophy in Iceland. A clinical, genealogic, and immunohistochemical study of 28 patients. Ophthalmology 103, 1111–1117 (1996).
pubmed: 8684802
doi: 10.1016/S0161-6420(96)30559-9
Schnyder, W. F. Mitteilung über einen neuen typus von familiärer hornhauterkrankung [German]. Schweiz. Med. Wschr. 10, 559–571 (1929).
Schnyder, W. F. Scheibenförmige kristalleinlagerungen in der hornhautmitte als erbleiden [German]. KIin. Monatsbl. Augenheilkd. 103, 494–502 (1939).
Weiss, J. S. Schnyder’s dystrophy of the cornea. A Swede-Finn connection. Cornea 11, 93–101 (1992).
pubmed: 1582223
doi: 10.1097/00003226-199203000-00001
Nickerson, M. L. et al. The UBIAD1 prenyltransferase links menaquione-4 synthesis to cholesterol metabolic enzymes. Hum. Mutat. 34, 317–329 (2013).
pubmed: 23169578
doi: 10.1002/humu.22230
Yamada, M., Mochizuki, H., Kamata, Y., Nakamura, Y. & Mashima, Y. Quantitative analysis of lipid deposits from Schnyder’s corneal dystrophy. Br. J. Ophthalmol. 82, 444–447 (1998).
pubmed: 9640198
pmcid: 1722539
doi: 10.1136/bjo.82.4.444
Weiss, J. S. Schnyder corneal dystrophy. Curr. Opin. Ophthalmol. 20, 292–298 (2009).
pubmed: 19398911
doi: 10.1097/ICU.0b013e32832b753e
Hung, C., Ayabe, R. I., Wang, C., Frausto, R. F. & Aldave, A. J. Pre-Descemet corneal dystrophy and X-linked ichthyosis associated with deletion of Xp22.31 containing the STS gene. Cornea 32, 1283–1287 (2013).
pubmed: 23807007
pmcid: 3740086
doi: 10.1097/ICO.0b013e318298e176
Costagliola, C., Fabbrocini, G., Illiano, G. M., Scibelli, G. & Delfino, M. Ocular findings in X-linked ichthyosis: a survey on 38 cases. Ophthalmologica 202, 152–155 (1991).
pubmed: 1923309
doi: 10.1159/000310197
Soh, Y. Q., Peh, G. S. & Mehta, J. S. Evolving therapies for Fuchs’ endothelial dystrophy. Regen. Med. 13, 97–115 (2018).
pubmed: 29360003
doi: 10.2217/rme-2017-0081
Luther, M. et al. TGC repeats in Intron 2 of the TCF4 gene have a good predictive power regarding to Fuchs endothelial corneal dystrophy [German]. Klin. Monbl. Augenheilkd. 233, 187–194 (2016).
pubmed: 26280645
Afshari, N. A. et al. Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. Nat. Commun. 8, 14898 (2017).
pubmed: 28358029
pmcid: 5379100
doi: 10.1038/ncomms14898
Soh, Y. Q., Kocaba, V., Pinto, M. & Mehta, J. S. Fuchs endothelial corneal dystrophy and corneal endothelial diseases: East meets West. Eye 34, 427–441 (2020).
pubmed: 31267087
doi: 10.1038/s41433-019-0497-9
Liu, C. et al. Ultraviolet A light induces DNA damage and estrogen-DNA adducts in Fuchs endothelial corneal dystrophy causing females to be more affected. Proc. Natl Acad. Sci. USA 117, 573–583 (2020).
pubmed: 31852820
doi: 10.1073/pnas.1912546116
Jurkunas, U. V. Fuchs endothelial corneal dystrophy through the prism of oxidative stress. Cornea 37 (Suppl. 1), 50–54 (2018).
doi: 10.1097/ICO.0000000000001775
Zhang, X. et al. Association of smoking and other risk factors with Fuchs’ endothelial corneal dystrophy severity and corneal thickness. Invest. Ophthalmol. Vis. Sci. 54, 5829–5835 (2013).
pubmed: 23882692
pmcid: 3755540
doi: 10.1167/iovs.13-11918
Zoega, G. M. et al. Prevalence and risk factors for cornea guttata in the Reykjavik eye study. Ophthalmology 113, 565–569 (2006).
pubmed: 16581419
doi: 10.1016/j.ophtha.2005.12.014
Krachmer, J. H., Purcell, J. J. Jr., Young, C. W. & Bucher, K. D. Corneal endothelial dystrophy. A study of 64 families. Arch. Ophthalmol. 96, 2036–2039 (1978).
pubmed: 309758
doi: 10.1001/archopht.1978.03910060424004
Kitagawa, K. et al. Prevalence of primary cornea guttata and morphology of corneal endothelium in aging Japanese and Singaporean subjects. Ophthalmic Res. 34, 135–138 (2002).
pubmed: 12097795
doi: 10.1159/000063656
Davidson, A. E. et al. Autosomal-dominant corneal endothelial dystrophies CHED1 and PPCD1 are allelic disorders caused by non-coding mutations in the promoter of OVOL2. Am. J. Hum. Genet. 98, 75–89 (2016).
pubmed: 26749309
doi: 10.1016/j.ajhg.2015.11.018
Hong, T. et al. An Ovol2-Zeb1 mutual inhibitory circuit governs bidirectional and multi-step transition between epithelial and mesenchymal states. PLoS Computational Biol. 11, e1004569 (2015).
doi: 10.1371/journal.pcbi.1004569
Biswas, S. 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. 10, 2415–2423 (2001).
pubmed: 11689488
doi: 10.1093/hmg/10.21.2415
Kobayashi, A. et al. Analysis of COL8A2 gene mutation in Japanese patients with Fuchs’ endothelial dystrophy and posterior polymorphous dystrophy. Jpn. J. Ophthalmol. 48, 195–198 (2004).
pubmed: 15175909
doi: 10.1007/s10384-003-0063-6
Yellore, V. S. et al. No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy. Invest. Ophthalmol. Vis. Sci. 46, 1599–1603 (2005).
pubmed: 15851557
doi: 10.1167/iovs.04-1321
Frausto, R. F. et al. ZEB1 insufficiency causes corneal endothelial cell state transition and altered cellular processing. PLoS One 14, e0218279 (2019).
pubmed: 31194824
pmcid: 6564028
doi: 10.1371/journal.pone.0218279
Liskova, P. et al. Ectopic GRHL2 expression due to non-coding mutations promotes cell state transition and causes posterior polymorphous corneal dystrophy 4. Am. J. Hum. Genet. 102, 447–459 (2018).
pubmed: 29499165
pmcid: 5985340
doi: 10.1016/j.ajhg.2018.02.002
Chung, D. D. et al. Alterations in GRHL2-OVOL2-ZEB1 axis and aberrant activation of Wnt signaling lead to altered gene transcription in posterior polymorphous corneal dystrophy. Exp. Eye Res. 188, 107696 (2019).
pubmed: 31233731
doi: 10.1016/j.exer.2019.107696
Liskova, P. et al. High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation. PLoS One 7, e45495 (2012).
pubmed: 23049806
pmcid: 3458081
doi: 10.1371/journal.pone.0045495
Schmid, E. et al. A new, X-linked endothelial corneal dystrophy. Am. J. Ophthalmol. 141, 478–487 (2006).
pubmed: 16490493
doi: 10.1016/j.ajo.2005.10.020
Gipson, I. K., Spurr-Michaud, S. J. & Tisdale, A. S. Anchoring fibrils form a complex network in human and rabbit cornea. Invest. Ophthalmol. Vis. Sci. 28, 212–220 (1987).
pubmed: 8591898
Kabosova, A. et al. Compositional differences between infant and adult human corneal basement membranes. Invest. Ophthalmol. Vis. Sci. 48, 4989–4999 (2007).
pubmed: 17962449
pmcid: 2151758
doi: 10.1167/iovs.07-0654
Torricelli, A. A. M., Singh, V., Santhiago, M. R. & Wilson, S. E. The corneal epithelial basement membrane: structure, function, and disease. Invest. Ophthalmol. Vis. Sci. 54, 6390–6400 (2013).
pubmed: 24078382
pmcid: 3787659
doi: 10.1167/iovs.13-12547
Legrand, J. Dystrophie épithéliale cornéenne récidivante familiale [French]. Bull. Soc. Ophtalmol. 5, 384–387 (1963).
Remler, O. Hereditary recurrent erosion of the cornea [German]. Klin. Monatsbl. Augenheilkd. 183, 59 (1983).
pubmed: 6887751
doi: 10.1055/s-2008-1054874
Shindo, S. Familial recurrent corneal erosion [Japanese]. Nippon Ganka Gakkai Zasshi 72, 998–1004 (1968).
pubmed: 5749631
Wales, H. J. A family history of corneal erosions. Trans. Ophthalmol. Soc. N. Z. 8, 77–78 (1955).
pubmed: 13380984
Franceschetti, A. Hereditäre rezidivierende Erosion der Hornhaut. Z Augenheilk 66, 309–316 (1928).
Lisch, W. et al. Franceschetti hereditary recurrent corneal erosion. Am. J. Ophthalmol. 153, 1073–1081.e4 (2012).
pubmed: 22402249
doi: 10.1016/j.ajo.2011.12.011
Hammar, B., Björck, E., Lagerstedt, K., Dellby, A. & Fagerholm, P. A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance. Acta Ophthalmol. 86, 758–763 (2008).
pubmed: 18778339
doi: 10.1111/j.1600-0420.2007.01123.x
Hammar, B. et al. Dystrophia Smolandiensis: a novel morphological picture of recurrent corneal erosions. Acta Ophthalmol. 88, 394–400 (2010).
pubmed: 19681763
doi: 10.1111/j.1755-3768.2009.01548.x
Hammar, B. et al. Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis. Acta Ophthalmol. 87, 659–665 (2009).
pubmed: 18700883
doi: 10.1111/j.1755-3768.2008.01308.x
Neira, W. et al. Dystrophia Helsinglandica-corneal morphology, topography and sensitivity in a hereditary corneal disease with recurrent erosive episodes. Acta Ophthalmol. 88, 401–406 (2010).
pubmed: 20597871
doi: 10.1111/j.1755-3768.2009.01844.x
Kuwabara, T. & Ciccarelli, E. C. Meesmann’s corneal dystrophy: a pathological study. Arch. Ophthalmol. 71, 676–682 (1964).
doi: 10.1001/archopht.1964.00970010692015
Irvine, A. D. et al. Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann’s corneal dystrophy. Nat. Genet. 16, 184–187 (1997).
pubmed: 9171831
doi: 10.1038/ng0697-184
Allen, E. H. A. et al. Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy. Hum. Mol. Genet. 25, 1176–1191 (2016).
pubmed: 26758872
pmcid: 4764196
doi: 10.1093/hmg/ddw001
McLean, W. H. I. & Moore, C. B. T. Keratin disorders: from gene to therapy. Hum. Mol. Genet. 20, R189–R197 (2011).
pubmed: 21890491
doi: 10.1093/hmg/ddr379
Lisch, W. & Weiss, J. S. Clinical and genetic update of corneal dystrophies. Exp. Eye Res. 186, 107715 (2019).
pubmed: 31301286
doi: 10.1016/j.exer.2019.107715
Lisch, W. et al. Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to Xp22.3. Am. J. Ophthalmol. 130, 461–468 (2000).
pubmed: 11024418
doi: 10.1016/S0002-9394(00)00494-3
Jongkhajornpong, P. et al. Novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy. Hum. Genome Var. 2, 15047 (2015).
pubmed: 27081552
pmcid: 4785563
doi: 10.1038/hgv.2015.47
Tsujikawa, M. et al. Identification of the gene responsible for gelatinous drop-like corneal dystrophy. Nat. Genet. 21, 420–423 (1999).
pubmed: 10192395
doi: 10.1038/7759
Kinoshita, S. et al. Epithelial barrier function and ultrastructure of gelatinous drop-like corneal dystrophy. Cornea 19, 551–555 (2000).
pubmed: 10928776
doi: 10.1097/00003226-200007000-00029
Nakatsukasa, M. et al. Tumor-associated calcium signal transducer 2 is required for the proper subcellular localization of claudin 1 and 7: implications in the pathogenesis of gelatinous drop-like corneal dystrophy. Am. J. Pathol. 177, 1344–1355 (2010).
pubmed: 20651236
pmcid: 2928967
doi: 10.2353/ajpath.2010.100149
Tsujikawa, M. Gelatinous drop-like corneal dystrophy. Cornea 31 (Suppl. 1), 37–40 (2012).
doi: 10.1097/ICO.0b013e31826a066a
McDougall, A. R. A., Tolcos, M., Hooper, S. B., Cole, T. J. & Wallace, M. J. Trop2: from development to disease. Dev. Dyn. 244, 99–109 (2015).
pubmed: 25523132
doi: 10.1002/dvdy.24242
Skonier, J. et al. cDNA cloning and sequence analysis of βig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-β. DNA Cell Biol. 11, 511–522 (1992).
pubmed: 1388724
doi: 10.1089/dna.1992.11.511
Ma, C. et al. Extracellular matrix protein βig-h3/TGFBI promotes metastasis of colon cancer by enhancing cell extravasation. Genes. Dev. 22, 308–321 (2008).
pubmed: 18245446
pmcid: 2216691
doi: 10.1101/gad.1632008
Zajchowski, D. A. et al. Identification of gene expression profiles that predict the aggressive behavior of breast cancer cells. Cancer Res. 61, 5168–5178 (2001).
pubmed: 11431356
Park, S.-Y., Jung, M.-Y. & Kim, I.-S. Stabilin-2 mediates homophilic cell-cell interactions via its FAS1 domains. FEBS Lett. 583, 1375–1380 (2009).
pubmed: 19328203
doi: 10.1016/j.febslet.2009.03.046
Korvatska, E. et al. On the role of kerato-epithelin in the pathogenesis of 5q31-linked corneal dystrophies. Invest. Ophthalmol. Vis. Sci. 40, 2213–2219 (1999).
pubmed: 10476785
Selkoe, D. J. Presenilin, Notch, and the genesis and treatment of Alzheimer’s disease. Proc. Natl Acad. Sci. USA 98, 11039–11041 (2001).
pubmed: 11572965
doi: 10.1073/pnas.211352598
Huang, W.-J., Zhang, X. & Chen, W.-W. Role of oxidative stress in Alzheimer’s disease. Biomed. Rep. 4, 519–522 (2016).
pubmed: 27123241
pmcid: 4840676
doi: 10.3892/br.2016.630
Lim, K. L. et al. Parkin mediates nonclassical, proteasomal-independent ubiquitination of synphilin-1: implications for Lewy body formation. J. Neurosci. 25, 2002–2009 (2005).
pubmed: 15728840
pmcid: 6726069
doi: 10.1523/JNEUROSCI.4474-04.2005
Chung, K. K. et al. Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease. Nat. Med. 7, 1144–1150 (2001).
pubmed: 11590439
doi: 10.1038/nm1001-1144
Scott, J. E. & Haigh, M. Identification of specific binding sites for keratan sulphate proteoglycans and chondroitin-dermatan sulphate proteoglycans on collagen fibrils in cornea by the use of cupromeronic blue in ‘critical-electrolyte-concentration’ techniques. Biochem. J. 253, 607–610 (1988).
pubmed: 2972275
pmcid: 1149341
doi: 10.1042/bj2530607
Lewis, D. et al. Ultrastructural localization of sulfated and unsulfated keratan sulfate in normal and macular corneal dystrophy type I. Glycobiology 10, 305–312 (2000).
pubmed: 10704529
doi: 10.1093/glycob/10.3.305
Zhang, J. et al. A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy. Aging 11, 1019–1029 (2019).
pubmed: 30716718
pmcid: 6382428
doi: 10.18632/aging.101807
Musselmann, K. & Hassell, J. R. Focus on molecules: CHST6 (carbohydrate sulfotransferase 6; corneal N-acetylglucosamine-6-sulfotransferase). Exp. Eye Res. 83, 707–708 (2006).
pubmed: 16549065
doi: 10.1016/j.exer.2005.11.020
Hassell, J. R., Newsome, D. A., Krachmer, J. H. & Rodrigues, M. M. Macular corneal dystrophy: failure to synthesize a mature keratan sulfate proteoglycan. Proc. Natl Acad. Sci USA 77, 3705–3709 (1980).
pubmed: 6447876
doi: 10.1073/pnas.77.6.3705
Aggarwal, S., Peck, T., Golen, J. & Karcioglu, Z. A. Macular corneal dystrophy: a review. Surv. Ophthalmol. 63, 609–617 (2018).
pubmed: 29604391
doi: 10.1016/j.survophthal.2018.03.004
Klintworth, G. K. & Vogel, F. S. Macular corneal dystrophy. An inherited acid mucopolysaccharide storage disease of the corneal fibroblast. Am. J. Pathol. 45, 565–586 (1964).
pubmed: 14217673
pmcid: 1907196
Orr, A. et al. Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. PLoS One 2, e685 (2007).
pubmed: 17668063
pmcid: 1925147
doi: 10.1371/journal.pone.0000685
Nakagawa, K. et al. Identification of UBIAD1 as a novel human menaquinone-4 biosynthetic enzyme. Nature 468, 117–121 (2010).
pubmed: 20953171
doi: 10.1038/nature09464
Jo, Y. et al. Schnyder corneal dystrophy-associated UBIAD1 inhibits ER-associated degradation of HMG CoA reductase in mice. Elife 8, e44396 (2019).
pubmed: 30785396
pmcid: 6402834
doi: 10.7554/eLife.44396
Weller, R. O. & Rodger, F. C. Crystalline stromal dystrophy: histochemistry and ultrastructure of the cornea. Br. J. Ophthalmol. 64, 46–52 (1980).
pubmed: 6986900
pmcid: 1039347
doi: 10.1136/bjo.64.1.46
Hariri, M. et al. Biogenesis of multilamellar bodies via autophagy. Mol. Biol. Cell 11, 255–268 (2000).
pubmed: 10637306
pmcid: 14772
doi: 10.1091/mbc.11.1.255
Weiss, J. S. & Khemichian, A. J. Differential diagnosis of Schnyder corneal dystrophy. Dev. Ophthalmol. 48, 67–96 (2011).
pubmed: 21540632
doi: 10.1159/000324078
Zhang, W. et al. Decorin is a pivotal effector in the extracellular matrix and tumour microenvironment. Oncotarget 9, 5480–5491 (2018).
pubmed: 29435195
pmcid: 5797066
doi: 10.18632/oncotarget.23869
Mohan, R. R., Tovey, J. C. K., Gupta, R., Sharma, A. & Tandon, A. Decorin biology, expression, function and therapy in the cornea. Curr. Mol. Med. 11, 110–128 (2011).
pubmed: 21342131
doi: 10.2174/156652411794859241
Bredrup, C., Knappskog, P. M., Majewski, J., Rødahl, E. & Boman, H. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Invest. Ophthalmol. Vis. Sci. 46, 420–426 (2005).
pubmed: 15671264
doi: 10.1167/iovs.04-0804
Kamma-Lorger, C. S. et al. Role of decorin core protein in collagen organisation in congenital stromal corneal dystrophy (CSCD). PLoS One 11, e0147948 (2016).
pubmed: 26828927
pmcid: 4734740
doi: 10.1371/journal.pone.0147948
Nicholson, D. H., Green, W. R., Cross, H. E., Kenyon, K. R. & Massof, D. A clinical and histopathological study of François-Neetens speckled corneal dystrophy. Am. J. Ophthalmol. 83, 554–560 (1977).
pubmed: 141212
doi: 10.1016/0002-9394(77)90566-9
Gee, J. A. et al. Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy. Mol. Vis. 21, 1093–1100 (2015).
pubmed: 26396486
pmcid: 4575904
Kawasaki, S. et al. A novel mutation (p.Glu1389AspfsX16) of the phosphoinositide kinase, FYVE finger containing gene found in a Japanese patient with fleck corneal dystrophy. Mol. Vis. 18, 2954–2960 (2012).
pubmed: 23288988
pmcid: 3534130
Li, S. et al. Mutations in PIP5K3 are associated with François-Neetens Mouchetée fleck corneal dystrophy. Am. J. Hum. Genet. 77, 54–63 (2005).
pubmed: 15902656
pmcid: 1226194
doi: 10.1086/431346
Kim, M. J. et al. Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12. PLoS One 9, e95037 (2014).
pubmed: 24759697
pmcid: 3997350
doi: 10.1371/journal.pone.0095037
Aldave, A. J. et al. Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC. Invest. Ophthalmol. Vis. Sci. 51, 4006–4012 (2010).
pubmed: 20357198
pmcid: 2910638
doi: 10.1167/iovs.09-4067
Fernandez-Sasso, D., Acosta, J. E. & Malbran, E. Punctiform and polychromatic pre-Descemet’s dominant corneal dystrophy. Br. J. Ophthalmol. 63, 336–338 (1979).
pubmed: 313810
pmcid: 1043483
doi: 10.1136/bjo.63.5.336
Alió Del Barrio, J. L. et al. Punctiform and polychromatic pre-Descemet corneal dystrophy: clinical evaluation and identification of the genetic basis. Am. J. Ophthalmol. 212, 88–97 (2020).
pubmed: 31782998
doi: 10.1016/j.ajo.2019.11.024
Henríquez-Recine, M. A. et al. Heredity and in vivo confocal microscopy of punctiform and polychromatic pre-Descemet dystrophy. Graefes Arch. Clin. Exp. Ophthalmol. 256, 1661–1667 (2018).
pubmed: 29728753
doi: 10.1007/s00417-018-3993-x
Curran, R. E., Kenyon, K. R. & Green, W. R. Pre-Descemet’s membrane corneal dystrophy. Am. J. Ophthalmol. 77, 711–716 (1974).
pubmed: 4363036
doi: 10.1016/0002-9394(74)90536-4
Grayson, M. & Wilbrandt, H. Pre-Descemet dystrophy. Am. J. Ophthalmol. 64, 276–282 (1967).
pubmed: 5298532
doi: 10.1016/0002-9394(67)92524-X
Alafaleq, M., Georgeon, C., Grieve, K. & Borderie, V. M. Multimodal imaging of pre-Descemet corneal dystrophy. Eur. J. Ophthalmol. https://doi.org/10.1177/1120672119862505 (2019).
doi: 10.1177/1120672119862505
pubmed: 31298040
Kempster, R. C., Hirst, L. W., Cruz de la, Z. & Green, W. R. Clinicopathologic study of the cornea in X-linked Ichthyosis. Arch. Ophthalmol. 115, 409–415 (1997).
pubmed: 9076217
doi: 10.1001/archopht.1997.01100150411017
Rudolf, M., Grösch, S. & Geerling, G. Recurrent bilateral corneal erosions and opacities in corneal stroma. Pre-Descemet dystrophy in X chromosome recessive ichthyosis [German]. Ophthalmologe 99, 962–963 (2002).
pubmed: 12539748
doi: 10.1007/s00347-002-0679-9
Tiepolo, L. et al. Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum. Genet. 54, 205–206 (1980).
pubmed: 6930361
doi: 10.1007/BF00278973
Diociaiuti, A. et al. X-linked ichthyosis: clinical and molecular findings in 35 Italian patients. Exp. Dermatol. 28, 1156–1163 (2019).
pubmed: 29672931
doi: 10.1111/exd.13667
Mootha, V. V. et al. TCF4 triplet repeat expansion and nuclear RNA foci in Fuchs’ endothelial corneal dystrophy. Invest. Ophthalmol. Vis. Sci. 56, 2003–2011 (2015).
pubmed: 25722209
pmcid: 4373545
doi: 10.1167/iovs.14-16222
Wieben, E. D. et al. Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene leads to widespread mRNA splicing changes in Fuchs’ endothelial corneal dystrophy. Invest. Ophthalmol. Vis. Sci. 58, 343–352 (2017). The authors of this paper were the first to describe the strong association between a trinucleotide repeat expansion in TCF4 and FECD; in this paper, they describe the pathophysiological link between the repeat expansion sequence and disease phenotype.
pubmed: 28118661
pmcid: 5270622
doi: 10.1167/iovs.16-20900
Azizi, B. et al. p53-regulated increase in oxidative-stress-induced apoptosis in Fuchs endothelial corneal dystrophy: a native tissue model. Invest. Ophthalmol. Vis. Sci. 52, 9291–9297 (2011).
pubmed: 22064994
pmcid: 3250096
doi: 10.1167/iovs.11-8312
Jurkunas, U. V., Bitar, M. S., Funaki, T. & Azizi, B. Evidence of oxidative stress in the pathogenesis of Fuchs endothelial corneal dystrophy. Am. J. Pathol. 177, 2278–2289 (2010).
pubmed: 20847286
pmcid: 2966787
doi: 10.2353/ajpath.2010.100279
Halilovic, A. et al. Menadione-induced DNA damage leads to mitochondrial dysfunction and fragmentation during rosette formation in Fuchs endothelial corneal dystrophy. Antioxid. Redox Signal. 24, 1072–1083 (2016).
pubmed: 26935406
pmcid: 4931310
doi: 10.1089/ars.2015.6532
Benischke, A.-S. et al. Activation of mitophagy leads to decline in Mfn2 and loss of mitochondrial mass in Fuchs endothelial corneal dystrophy. Sci. Rep. 7, 6656 (2017).
pubmed: 28751712
pmcid: 5532298
doi: 10.1038/s41598-017-06523-2
Miyai, T. et al. Activation of PINK1-Parkin-mediated mitophagy degrades mitochondrial quality control proteins in Fuchs endothelial corneal dystrophy. Am. J. Pathol. 189, 2061–2076 (2019).
pubmed: 31361992
doi: 10.1016/j.ajpath.2019.06.012
Matthaei, M. et al. Fuchs endothelial corneal dystrophy: clinical, genetic, pathophysiologic, and therapeutic aspects. Annu. Rev. Vis. Sci. 5, 151–175 (2019).
pubmed: 31525145
doi: 10.1146/annurev-vision-091718-014852
Kim, E. C. et al. Screening and characterization of drugs that protect corneal endothelial cells against unfolded protein response and oxidative stress. Invest. Ophthalmol. Vis. Sci. 58, 892–900 (2017).
pubmed: 28159976
pmcid: 5295784
doi: 10.1167/iovs.16-20147
Toyono, T. et al. MicroRNA-29b overexpression decreases extracellular matrix mRNA and protein production in human corneal endothelial cells. Cornea 35, 1466–1470 (2016).
pubmed: 27490049
pmcid: 5067961
doi: 10.1097/ICO.0000000000000954
Matthaei, M. et al. Transcript profile of cellular senescence-related genes in Fuchs endothelial corneal dystrophy. Exp. Eye Res. 129, 13–17 (2014).
pubmed: 25311168
pmcid: 4259834
doi: 10.1016/j.exer.2014.10.011
Miyajima, T. et al. Loss of NQO1 generates genotoxic estrogen-DNA adducts in Fuchs endothelial corneal dystrophy. Free. Radic. Biol. Med. 147, 69–79 (2020).
pubmed: 31857234
doi: 10.1016/j.freeradbiomed.2019.12.014
Chaurasia, S., Mittal, R., Bichappa, G., Ramappa, M. & Murthy, S. I. Clinical characterization of posterior polymorphous corneal dystrophy in patients of Indian ethnicity. Int. Ophthalmol. 37, 945–952 (2017).
pubmed: 27658681
doi: 10.1007/s10792-016-0360-y
Shiraishi, A., Zheng, X., Sakane, Y., Hara, Y. & Hayashi, Y. In vivo confocal microscopic observations of eyes diagnosed with posterior corneal vesicles. Jpn. J. Ophthalmol. 60, 425–432 (2016).
pubmed: 27585920
doi: 10.1007/s10384-016-0473-x
Aldave, A. J., Han, J. & Frausto, R. F. Genetics of the corneal endothelial dystrophies: an evidence-based review. Clin. Genet. 84, 139–119 (2013).
doi: 10.1111/cge.12191
Patel, S. P. & Parker, M. D. SLC4A11 and the pathophysiology of congenital hereditary endothelial dystrophy. Biomed. Res. Int. 2015, 475392 (2015).
pubmed: 26451371
pmcid: 4588344
doi: 10.1155/2015/475392
Vilas, G. L. et al. Transmembrane water-flux through SLC4A11: a route defective in genetic corneal diseases. Hum. Mol. Genet. 22, 4579–4590 (2013).
pubmed: 23813972
pmcid: 3889808
doi: 10.1093/hmg/ddt307
Lopez, I. A. et al. Slc4a11 gene disruption in mice: cellular targets of sensorineuronal abnormalities. J. Biol. Chem. 284, 26882–26896 (2009).
pubmed: 19586905
pmcid: 2785376
doi: 10.1074/jbc.M109.008102
Desir, J. & Abramowicz, M. Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome). Orphanet J. Rare Dis. 3, 28 (2008).
pubmed: 18922146
pmcid: 2576053
doi: 10.1186/1750-1172-3-28
Feder, R. S. et al. Subepithelial mucinous corneal dystrophy. Clinical and pathological correlations. Arch. Ophthalmol. 111, 1106–1114 (1993).
pubmed: 8352693
doi: 10.1001/archopht.1993.01090080102025
Pole, C. et al. High-resolution optical coherence tomography findings of Lisch epithelial corneal dystrophy. Cornea 35, 392–394 (2016).
pubmed: 26764880
pmcid: 4740230
doi: 10.1097/ICO.0000000000000722
Patel, D. V., Grupcheva, C. N. & McGhee, C. N. J. Imaging the microstructural abnormalities of Meesmann corneal dystrophy by in vivo confocal microscopy. Cornea 24, 669–673 (2005).
pubmed: 16015084
doi: 10.1097/01.ico.0000154389.51125.70
Klintworth, G. K. Corneal dystrophies. Orphanet J. Rare Dis. 4, 7 (2009).
pubmed: 19236704
pmcid: 2695576
doi: 10.1186/1750-1172-4-7
Javadi, M.-A., Rezaei-Kanavi, M., Javadi, A. & Naghshgar, N. Meesmann corneal dystrophy; a clinico-pathologic, ultrastructural and confocal scan report. J. Ophthalmic Vis. Res. 5, 122–126 (2010).
pubmed: 22737341
pmcid: 3380688
Kurbanyan, K., Sejpal, K. D., Aldave, A. J. & Deng, S. X. In vivo confocal microscopic findings in Lisch corneal dystrophy. Cornea 31, 437 (2012).
pubmed: 22222997
doi: 10.1097/ICO.0b013e318239ad37
Ide, T. et al. A spectrum of clinical manifestations of gelatinous drop-like corneal dystrophy in Japan. Am. J. Ophthalmol. 137, 1081–1084 (2004).
pubmed: 15183793
doi: 10.1016/j.ajo.2004.01.048
Kobayashi, A. & Sugiyama, K. In vivo laser confocal microscopy findings for Bowman’s layer dystrophies (Thiel-Behnke and Reis-Bücklers corneal dystrophies). Ophthalmology 114, 69–75 (2007).
pubmed: 17198850
doi: 10.1016/j.ophtha.2006.05.076
Werner, L. P., Werner, L., Dighiero, P., Legeais, J. M. & Renard, G. Confocal microscopy in Bowman and stromal corneal dystrophies. Ophthalmology 106, 1697–1704 (1999).
pubmed: 10485537
doi: 10.1016/S0161-6420(99)90358-5
Nowinska, A. K. et al. Comparative study of anterior eye segment measurements with spectral swept-source and time-domain optical coherence tomography in eyes with corneal dystrophies. Biomed. Res. Int. 2015, 805367 (2015).
pubmed: 26457303
pmcid: 4589615
doi: 10.1155/2015/805367
Chaurasia, S., Ramappa, M. & Mishra, D. K. Clinical diversity in macular corneal dystrophy: an optical coherence tomography study. Int. Ophthalmol. 39, 2883–2888 (2019).
pubmed: 31161334
doi: 10.1007/s10792-019-01136-2
Rubinstein, Y. et al. Macular corneal dystrophy and posterior corneal abnormalities. Cornea 35, 1605–1610 (2016).
pubmed: 27755187
doi: 10.1097/ICO.0000000000001054
Sarosiak, A. et al. Clinical diversity in patients with Schnyder corneal dystrophy — a novel and known UBIAD1 pathogenic variants. Graefes Arch. Clin. Exp. Ophthalmol. 256, 2127–2134 (2018).
pubmed: 30084067
pmcid: 6208719
doi: 10.1007/s00417-018-4075-9
Lisch, W. et al. Schnyder’s dystrophy. Progression and metabolism. Ophthalmic Paediatr. Genet. 7, 45–56 (1986).
pubmed: 3486394
doi: 10.3109/13816818609058041
Weiss, J. S. et al. Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. Am. J. Med. Genet. A 146A, 271–283 (2008).
pubmed: 18176953
doi: 10.1002/ajmg.a.32201
Lin, B. R. et al. Identification of the first de novo UBIAD1 gene mutation associated with Schnyder corneal dystrophy. J. Ophthalmol. 2016, 1968493 (2016).
pubmed: 27382485
pmcid: 4921136
Witschel, H., Fine, B. S., Grützner, P. & McTigue, J. W. Congenital hereditary stromal dystrophy of the cornea. Arch. Ophthalmol. 96, 1043–1051 (1978).
pubmed: 350201
doi: 10.1001/archopht.1978.03910050563015
Jiao, X. et al. Genetic linkage of Francois-Neetens fleck (Mouchetée) corneal dystrophy to chromosome 2q35. Hum. Genet. 112, 593–599 (2003).
pubmed: 12607114
doi: 10.1007/s00439-002-0905-1
Akova, Y. A., Unlü, N. & Duman, S. Fleck dystrophy of the cornea; a report of cases from three generations of a family. Eur. J. Ophthalmol. 4, 123–125 (1994).
pubmed: 7950337
doi: 10.1177/112067219400400209
Moshegov, C. N., Hoe, W. K., Wiffen, S. J. & Daya, S. M. Posterior amorphous corneal dystrophy: a new pedigree with phenotypic variation. Ophthalmology 103, 474–478 (1996).
pubmed: 8600425
doi: 10.1016/S0161-6420(96)30669-6
Kontadakis, G. A., Kymionis, G. D., Kankariya, V. P., Papadiamantis, A. G. & Pallikaris, A. I. Corneal confocal microscopy findings in sporadic cases of pre-Descemet corneal dystrophy. Eye Contact Lens 40, e8–e12 (2014).
pubmed: 23392298
doi: 10.1097/ICL.0b013e318273be9f
Lagrou, L., Midgley, J. & Romanchuk, K. G. Punctiform and polychromatophilic dominant pre-Descemet corneal dystrophy. Cornea 35, 572–575 (2016).
pubmed: 26845315
doi: 10.1097/ICO.0000000000000772
Soh, Y. Q. & Mehta, J. S. Selective endothelial removal for Peters anomaly. Cornea 37, 382–385 (2018).
pubmed: 29408830
doi: 10.1097/ICO.0000000000001472
Acar, B. T., Bozkurt, K. T., Duman, E. & Acar, S. Bilateral cloudy cornea: is the usual suspect congenital hereditary endothelial dystrophy or stromal dystrophy? BMJ Case Rep. 2016, bcr2015214094 (2016).
pubmed: 27107055
pmcid: 4854138
doi: 10.1136/bcr-2015-214094
Yu Chan, J. Y., Choy, B. N., Ng, A. L. & Shum, J. W. Review on the management of primary congenital glaucoma. J. Curr. Glaucoma Pract. 9, 92–99 (2015).
pubmed: 26997844
doi: 10.5005/jp-journals-10008-1192
Wacker, K., McLaren, J. W., Amin, S. R., Baratz, K. H. & Patel, S. V. Corneal high-order aberrations and backscatter in Fuchs’ endothelial corneal dystrophy. Ophthalmology 122, 1645–1652 (2015).
pubmed: 26050543
pmcid: 4516693
doi: 10.1016/j.ophtha.2015.05.005
Fritz, M. et al. Diurnal variation in corneal edema in Fuchs endothelial corneal dystrophy. Am. J. Ophthalmol. 207, 351–355 (2019).
pubmed: 31415734
doi: 10.1016/j.ajo.2019.08.002
Read, S. A. & Collins, M. J. Diurnal variation of corneal shape and thickness. Optom. Vis. Sci. 86, 170–180 (2009).
pubmed: 19182699
doi: 10.1097/OPX.0b013e3181981b7e
Soliman, A. Z., Xing, C., Radwan, S. H., Gong, X. & Mootha, V. V. Correlation of severity of Fuchs endothelial corneal dystrophy with triplet repeat expansion in TCF4. JAMA Ophthalmol. 133, 1386–1391 (2015).
pubmed: 26401622
doi: 10.1001/jamaophthalmol.2015.3430
Eghrari, A. O. et al. CTG18.1 expansion in TCF4 increases likelihood of transplantation in Fuchs corneal dystrophy. Cornea 36, 40–43 (2017).
pubmed: 27755191
pmcid: 5138126
doi: 10.1097/ICO.0000000000001049
Liskova, P., Filipec, M., Merjava, S., Jirsova, K. & Tuft, S. J. Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene. Ophthalmic Genet. 31, 230–234 (2010).
pubmed: 21067486
doi: 10.3109/13816810.2010.518577
Cibis, G. W., Krachmer, J. A., Phelps, C. D. & Weingeist, T. A. The clinical spectrum of posterior polymorphous dystrophy. Arch. Ophthalmol. 95, 1529–1537 (1977).
pubmed: 302697
doi: 10.1001/archopht.1977.04450090051002
Lefebvre, V., Sowka, J. W. & Frauens, B. J. The clinical spectrum between posterior polymorphous dystrophy and iridocorneal endothelial syndromes. Optometry 80, 431–436 (2009).
pubmed: 19635434
doi: 10.1016/j.optm.2009.02.009
Krachmer, J. H. Posterior polymorphous corneal dystrophy: a disease characterized by epithelial-like endothelial cells which influence management and prognosis. Trans. Am. Ophthalmol. Soc. 83, 413–475 (1985).
pubmed: 3914130
pmcid: 1298709
Liskova, P., Palos, M., Hardcastle, A. J. & Vincent, A. L. Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3. JAMA Ophthalmol. 131, 1296–1303 (2013).
pubmed: 23807282
doi: 10.1001/jamaophthalmol.2013.405
Ho, C. L. & Walton, D. S. Primary congenital glaucoma: 2004 update. J. Pediatr. Ophthalmol. Strabismus 41, 271–288 (2004).
pubmed: 15478740
doi: 10.3928/01913913-20040901-11
Tan, Y.-L., Chua, J. & Ho, C.-L. Updates on the surgical management of pediatric glaucoma. Asia Pac. J. Ophthalmol. 5, 85–92 (2016).
doi: 10.1097/APO.0000000000000182
Singh, R. P. et al. Alcohol delamination of the corneal epithelium for recalcitrant recurrent corneal erosion syndrome: a prospective study of efficacy and safety. Br. J. Ophthalmol. 91, 908–911 (2007).
pubmed: 17301117
pmcid: 1955680
doi: 10.1136/bjo.2006.112912
Watson, S. L. & Leung, V. Interventions for recurrent corneal erosions. Cochrane Database Syst. Rev. 7, CD001861 (2018).
pubmed: 29985545
Lee, W.-S., Lam, C. K. & Manche, E. E. Phototherapeutic keratectomy for epithelial basement membrane dystrophy. Clin. Ophthalmol. 11, 15–22 (2016).
pubmed: 28031698
pmcid: 5179214
doi: 10.2147/OPTH.S122870
Jalbert, I. & Stapleton, F. Management of symptomatic Meesmann dystrophy. Optom. Vis. Sci. 86, E1202–E1206 (2009).
pubmed: 19741557
doi: 10.1097/OPX.0b013e3181baad27
Bourne, W. M. Soft contact lens wear decreases epithelial microcysts in Meesmann’s corneal dystrophy. Trans. Am. Ophthalmol. Soc. 84, 170–182 (1986).
pubmed: 3495920
pmcid: 1298733
Zarei-Ghanavati, M. & Liu, C. Keratoprosthesis: current choices and future development. Asia Pac. J. Ophthalmol. 8, 429–431 (2019).
doi: 10.1097/APO.0000000000000268
Lekhanont, K., Jongkhajornpong, P., Chuephanich, P., Inatomi, T. & Kinoshita, S. Boston type 1 keratoprosthesis for gelatinous drop-like corneal dystrophy. Optom. Vis. Sci. 93, 640–646 (2016).
pubmed: 26990741
doi: 10.1097/OPX.0000000000000835
Avadhanam, V., Messina, M., Said, D. G. & Dua, H. S. Alcohol delamination of corneal epithelium in recurrent granular dystrophy. Ophthalmology 123, 2050–2052 (2016).
pubmed: 27425823
doi: 10.1016/j.ophtha.2016.06.004
Seitz, B. & Lisch, W. Stage-related therapy of corneal dystrophies. Dev. Ophthalmol. 48, 116–153 (2011).
pubmed: 21540634
doi: 10.1159/000324081
Dinh, R., Rapuano, C. J., Cohen, E. J. & Laibson, P. R. Recurrence of corneal dystrophy after excimer laser phototherapeutic keratectomy. Ophthalmology 106, 1490–1497 (1999).
pubmed: 10442892
doi: 10.1016/S0161-6420(99)90441-4
Stewart, O. G., Pararajasegaram, P., Cazabon, J. & Morrell, A. J. Visual and symptomatic outcome of excimer phototherapeutic keratectomy (PTK) for corneal dystrophies. Eye 16, 126–131 (2002).
pubmed: 11988810
doi: 10.1038/sj/eye/6700049
Reddy, J. C., Rapuano, C. J., Hammersmith, K. M. & Nagra, P. K. Clinical outcomes of surgical intervention for stromal corneal dystrophies. Invest. Ophthalmol. Vis. Sci. 53, 6052–6052 (2012).
Lewis, D. R., Price, M. O., Feng, M. T. & Price, F. W. Jr. Recurrence of granular corneal dystrophy type 1 after phototherapeutic keratectomy, lamellar keratoplasty, and penetrating keratoplasty in a single population. Cornea 36, 1227–1232 (2017).
pubmed: 28749898
Marcon, A. S., Cohen, E. J., Rapuano, C. J. & Laibson, P. R. Recurrence of corneal stromal dystrophies after penetrating keratoplasty. Cornea 22, 19–21 (2003).
pubmed: 12502942
doi: 10.1097/00003226-200301000-00005
Küchle, M., Green, W. R., Völcker, H. E. & Barraquer, J. Reevaluation of corneal dystrophies of Bowman’s layer and the anterior stroma (Reis-Bücklers and Thiel-Behnke types): a light and electron microscopic study of eight corneas and a review of the literature. Cornea 14, 333–354 (1995).
pubmed: 7671605
doi: 10.1097/00003226-199507000-00001
Reddy, J. C. et al. Clinical outcomes and risk factors for graft failure after deep anterior lamellar keratoplasty and penetrating keratoplasty for macular corneal dystrophy. Cornea 34, 171–176 (2015).
pubmed: 25514701
doi: 10.1097/ICO.0000000000000327
Köksal, M., Kargi, S., Gürelik, G. & Akata, F. Phototherapeutic keratectomy in Schnyder crystalline corneal dystrophy. Cornea 23, 311–313 (2004).
pubmed: 15084868
doi: 10.1097/00003226-200404000-00017
Paparo, L. G. et al. Phototherapeutic keratectomy for Schnyder’s crystalline corneal dystrophy. Cornea 19, 343–347 (2000).
pubmed: 10832696
doi: 10.1097/00003226-200005000-00017
Freddo, T. F., Polack, F. M. & Leibowitz, H. M. Ultrastructural changes in the posterior layers of the cornea in Schnyder’s crystalline dystrophy. Cornea 8, 170–177 (1989).
pubmed: 2663345
doi: 10.1097/00003226-198909000-00002
Mehta, J. S. et al. Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy. Br. J. Ophthalmol. 93, 926–931 (2009).
pubmed: 19429578
doi: 10.1136/bjo.2008.152140
Zhu, A. Y., Marquezan, M. C., Kraus, C. L. & Prescott, C. R. Pediatric corneal transplants: review of current practice patterns. Cornea 37, 973–980 (2018).
pubmed: 29746327
doi: 10.1097/ICO.0000000000001613
Trief, D., Marquezan, M. C., Rapuano, C. J. & Prescott, C. R. Pediatric corneal transplants. Curr. Opin. Ophthalmol. 28, 477–484 (2017).
pubmed: 28505034
doi: 10.1097/ICU.0000000000000393
Eghrari, A. O. et al. Automated retroillumination photography analysis for objective assessment of Fuchs corneal dystrophy. Cornea 36, 44–47 (2017).
pubmed: 27811565
pmcid: 5138098
doi: 10.1097/ICO.0000000000001056
AlArrayedh, H., Collum, L. & Murphy, C. C. Outcomes of penetrating keratoplasty in congenital hereditary endothelial dystrophy. Br. J. Ophthalmol. 102, 19–25 (2018).
pubmed: 28478395
doi: 10.1136/bjophthalmol-2016-309565
Özdemir, B. et al. Penetrating keratoplasty in congenital hereditary endothelial dystrophy. Cornea 31, 359–365 (2012).
pubmed: 22240922
doi: 10.1097/ICO.0b013e31823d03af
Schaumberg, D. A., Moyes, A. L., Gomes, J. A. & Dana, M. R. Corneal transplantation in young children with congenital hereditary endothelial dystrophy. Multicenter Pediatric Keratoplasty Study. Am. J. Ophthalmol. 127, 373–378 (1999).
pubmed: 10218688
doi: 10.1016/S0002-9394(98)00435-8
Mohebbi, M., Nabavi, A., Fadakar, K. & Hashemi, H. Outcomes of Descemet-stripping automated endothelial keratoplasty in congenital hereditary endothelial dystrophy. Eye Contact Lens 46, 57–62 (2020).
pubmed: 31008826
doi: 10.1097/ICL.0000000000000604
Madi, S., Santorum, P. & Busin, M. Descemet stripping automated endothelial keratoplasty in pediatric age group. Saudi J. Ophthalmol. 26, 309–313 (2012).
pubmed: 23961011
pmcid: 3729813
doi: 10.1016/j.sjopt.2012.04.006
Ashar, J. N., Ramappa, M. & Vaddavalli, P. K. Paired-eye comparison of Descemet’s stripping endothelial keratoplasty and penetrating keratoplasty in children with congenital hereditary endothelial dystrophy. Br. J. Ophthalmol. 97, 1247–1249 (2013).
pubmed: 23613513
doi: 10.1136/bjophthalmol-2012-302602
Ashar, J. N., Madhavi Latha, K. & Vaddavalli, P. K. Descemet’s stripping endothelial keratoplasty (DSEK) for children with congenital hereditary endothelial dystrophy: surgical challenges and 1-year outcomes. Graefes Arch. Clin. Exp. Ophthalmol. 250, 1341–1345 (2012).
pubmed: 22527319
doi: 10.1007/s00417-012-2014-8
Yang, F. et al. Descemet stripping endothelial keratoplasty in pediatric patients with congenital hereditary endothelial dystrophy. Am. J. Ophthalmol. 209, 132–140 (2020).
pubmed: 31465754
doi: 10.1016/j.ajo.2019.08.010
Anwar, H. M. & El-Danasoury, A. Endothelial keratoplasty in children. Curr. Opin. Ophthalmol. 25, 340–346 (2014).
pubmed: 24807065
doi: 10.1097/ICU.0000000000000063
Quantock, A. J., Nishida, K. & Kinoshita, S. Histopathology of recurrent gelatinous drop-like corneal dystrophy. Cornea 17, 215–221 (1998).
pubmed: 9520202
doi: 10.1097/00003226-199803000-00018
Ang, M., Soh, Y., Htoon, H. M., Mehta, J. S. & Tan, D. Five-year graft survival comparing Descemet stripping automated endothelial keratoplasty and penetrating keratoplasty. Ophthalmology 123, 1646–1652 (2016).
pubmed: 27262764
doi: 10.1016/j.ophtha.2016.04.049
Venkatraman, A. et al. Effect of osmolytes on in-vitro aggregation properties of peptides derived from TGFBIp. Sci. Rep. 10, 4011 (2020).
pubmed: 32132634
pmcid: 7055237
doi: 10.1038/s41598-020-60944-0
Courtney, D. G. et al. Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I. Invest. Ophthalmol. Vis. Sci. 55, 977–985 (2014).
pubmed: 24425855
doi: 10.1167/iovs.13-13279
Yuan, C., Zins, E. J., Clark, A. F. & Huang, A. J. W. Suppression of keratoepithelin and myocilin by small interfering RNAs (siRNA) in vitro. Mol. Vis. 13, 2083–2095 (2007).
pubmed: 18079684
Christie, K. A. et al. Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders. Sci. Rep. 7, 16174 (2017).
pubmed: 29170458
pmcid: 5701044
doi: 10.1038/s41598-017-16279-4
Kim, E. K., Kim, S. & Maeng, Y.-S. Generation of TGFBI knockout ABCG2
pubmed: 30753226
pmcid: 6372159
doi: 10.1371/journal.pone.0211864
Courtney, D. G. et al. siRNA silencing of the mutant keratin 12 allele in corneal limbal epithelial cells grown from patients with Meesmann’s epithelial corneal dystrophy. Invest. Ophthalmol. Vis. Sci. 55, 3352–3360 (2014).
pubmed: 24801514
doi: 10.1167/iovs.13-12957
Liao, H. et al. Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy. PLoS One 6, e28582 (2011).
pubmed: 22174841
pmcid: 3236202
doi: 10.1371/journal.pone.0028582
Szabó, D. J. et al. Ex vivo 3D human corneal stroma model for Schnyder corneal dystrophy - role of autophagy in its pathogenesis and resolution. Histol. Histopathol. 33, 455–462 (2018).
pubmed: 28872183
Peh, G. S. L. et al. Propagation of human corneal endothelial cells: a novel dual media approach. Cell Transpl. 24, 287–304 (2015). One of the first published methods to reliably culture human corneal endothelial cells at significant scale while minimizing the loss of endothelial cell properties during culture.
doi: 10.3727/096368913X675719
Peh, G. S. L., Beuerman, R. W., Colman, A., Tan, D. T. & Mehta, J. S. Human corneal endothelial cell expansion for corneal endothelium transplantation: an overview. Transplantation 91, 811–819 (2011).
pubmed: 21358368
doi: 10.1097/TP.0b013e3182111f01
Wahlig, S., Kocaba, V. & Mehta, J. S. Cultured cells and ROCK inhibitor for bullous keratopathy. N. Engl. J. Med. 379, 1184 (2018).
pubmed: 30260152
doi: 10.1056/NEJMc1805808
Zarouchlioti, C. et al. Antisense therapy for a common corneal dystrophy ameliorates TCF4 repeat expansion-mediated toxicity. Am. J. Hum. Genet. 102, 528–539 (2018).
pubmed: 29526280
pmcid: 5985359
doi: 10.1016/j.ajhg.2018.02.010
Jinek, M. et al. A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity. Science 337, 816–821 (2012).
pubmed: 6286148
pmcid: 6286148
doi: 10.1126/science.1225829
Feng, Z. et al. Efficient genome editing in plants using a CRISPR/Cas system. Cell Res. 23, 1229–1232 (2013). This article and that of Jinek et al. are pioneering publications describing the potential use of the CRISPR–Cas9 platform for human gene therapy.
pubmed: 23958582
pmcid: 3790235
doi: 10.1038/cr.2013.114