References

  1. Klintworth GK: Genetic disorders of the cornea. In Garner and Klintworth's Pathobiology of Ocular Disease. Third edition. Edited by: Klintworth GK, Garner A. New York: Informa Heathcare; 2008:655-712. OpenURL

  2. Klintworth GK: Corneal dystrophies. In Ocular Pathology Update. Edited by: Nicholson DH. New York: Masson; 1980:23-54. OpenURL

  3. Klintworth GK: The molecular genetics of the corneal dystrophies – current status.

    Frontiers in Bioscience 2002, 8:687-713. Publisher Full Text OpenURL

  4. Weiss JS, Moller H, Lisch W, Kinoshita S, Aldave A, Belin MW, Busin M, Kim EK, Munier F, Seitz W, Sutphin J, Bredrup C, Mannis M, Rapuano C, van Rij G, Kim EK, Klintworth GK: The IC3D Classification of Corneal Dystrophies.

    Cornea 2008, 27(Suppl.2):S1-S42. PubMed Abstract | Publisher Full Text OpenURL

  5. Szaflik JP, Oldak M, Maksym RB, Kaminska A, Pollak A, Udziela M, Ploski R, Szaflik J: Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.

    Mol Vis 2008, 14:1713-1718. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  6. Tsujikawa M, Kurahashi H, Tanaka T, Okada M, Yamamoto S, Maeda N, Watanabe H, Inoue Y, Kiridoshi A, Matsumoto K, Ohashi Y, Kinoshita S, Shimomura Y, Nakamura Y, Tano Y: Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p.

    Am J Hum Genet 1998, 63:1073-1077. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  7. Meesmann A: Über eine bisher nicht beschriebene dominant verterbte Dystrophia epithelialis corneae.

    Ber Dtsch Ophthalmol Ges 1938, 52:154. OpenURL

  8. Meesmann A, Wilke F: Klinische und anatomische Untersuchungen uber eine bisher unbekannte, dominant vererbte Epitheldystrophie der Hornhaut.

    Klin Monatsbl Augenheilkd 1939, 103:361. OpenURL

  9. Pameijer JK: Ueber eine fremdartige familiäre oberflächliche Hornhautveränderung.

    Klin Monatsbl Augenheilkd 1935, 95:516-517. OpenURL

  10. Burns RP: Meesman's corneal dystrophy.

    Trans Am Ophthalmol Soc 1968, 66:530-635. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  11. Fine BS, Yanoff M, Pitts E, Slaughter FD: Meesmann's epithelial dystrophy of the cornea.

    Am J Ophthalmol 1977, 83:633-642. PubMed Abstract OpenURL

  12. Kuwabara T, Ciccarelli EC: Meesmann's corneal dystrophy: a pathological study.

    Arch Ophthalmol 1964, 71:676-682. OpenURL

  13. Nakanishi I, Brown SI: Clinicopathologic case report: ultrastructure of the epithelial dystrophy of Meesmann.

    Arch Ophthalmol 1975, 93:259-263. PubMed Abstract | Publisher Full Text OpenURL

  14. Corden LD, Swensson O, Swensson B, Smith FJ, Rochels R, Uitto J: Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.

    Exp Eye Res 2000, 70:41-49. PubMed Abstract | Publisher Full Text OpenURL

  15. Corden LD, Swensson O, Swensson B, Rochels R, Wannke B, Thiel HJ, McLean WH: A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy.

    Br J Ophthalmol 2000, 84:527-530. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  16. Irvine AD, Corden LD, Swensson O, Swensson B, Moore JE, Frazer DG, Smith FJ, Knowlton RG, Christophers E, Rochels R, Uitto J, McLean WH: Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.

    Nat Genet 1997, 16:184-187. PubMed Abstract | Publisher Full Text OpenURL

  17. Irvine AD, Coleman CM, Moore JE, Swensson O, Morgan SJ, McCarthy JH, Smith FJ, Black GC, McLean WH: A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.

    Br J Ophthalmol 2002, 86:729-732. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  18. Nishida K, Honma Y, Dota A, Kawasaki S, Adachi W, Nakamura T, Quantock AJ, Hosotani H, Yamamoto S, Okada M, Shimomura Y, Kinoshita S: Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.

    Am J Hum Genet 1997, 61:1268-1275. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  19. Stocker FW, Holt LB: A rare form of hereditary epithelial dystrophy of the cornea. A genetic, clinical and pathologic study.

    Trans Am Ophthalmol Soc 1954, 52:133-144. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  20. Stocker FW, Holt LB: Rare form of hereditary epithelial dystrophy: Genetic, clinical and pathologic study.

    Arch Ophthalmol 1955, 53:536. OpenURL

  21. Klintworth GK, Sommer JR, Karolak LA, Reed JW: Identification of a new keratin K12 mutations associated with Stocker-Holt corneal dystrophy that differs from mutations found in Meesmann corneal dystrophy.

    Invest Ophthalmol Vis Sci 1999, 40:S563. OpenURL

  22. Reis W: Fämiliare, fleckige Hornhautetartung.

    Dtsch Med Wochenschr 1917, 43:575. OpenURL

  23. Bücklers M: Über eine weitere familiare Hornhautdystrophie (Reis).

    Klin Monatsbl Augenheilkd 1949, 114:386-397. OpenURL

  24. Haddad R, Font RL, Fine BS: Unusual superficial variant of granular dystrophy of the cornea.

    Am J Ophthalmol 1977, 83:213-218. PubMed Abstract OpenURL

  25. Møller HU: Granular corneal dystrophy Groenouw type I (GrI) and Reis-Bücklers' corneal dystrophy (R-B). One entity?

    Acta Ophthalmol (Copenh) 1989, 67:678-684. PubMed Abstract | Publisher Full Text OpenURL

  26. Rodrigues MM, Gaster RN, Pratt MV: Unusual superficial confluent form of granular corneal dystrophy.

    Ophthalmology 1983, 90:1507-1511. PubMed Abstract | Publisher Full Text OpenURL

  27. Wittebol-Post D, Pels E: The dystrophy described by Reis and Bucklers. Separate entity or variant of the granular dystrophy?

    Ophthalmologica 1989, 199:1-9. PubMed Abstract OpenURL

  28. Li D, Qi Y, Wang L, Lin H, Zhou N, Zhao L: An atypical phenotype of Reis-Bucklers corneal dystrophy caused by the G623D mutation in TGFBI.

    Mol Vis 2008, 14:1298-1302. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  29. Okada M, Yamamoto S, Tsujikawa M, Watanabe H, Inoue Y, Maeda N, Shimomura Y, Nishida K, Quantock AJ, Kinoshita S, Tano Y: Two distinct kerato-epithelin mutations in Reis-Bucklers corneal dystrophy.

    Am J Ophthalmol 1998, 126:535-542. PubMed Abstract | Publisher Full Text OpenURL

  30. Takahashi K, Murakami A, Okisaka S: [Kerato-epithelin mutation (R 555 Q) in a case of Reis-Bucklers corneal dystrophy (see comments)]. [Japanese].

    Nippon Ganka Gakkai Zasshi – Acta Soc Ophthalmol Jpn 1999, 103:761-764. OpenURL

  31. Rozzo C, Fossarello M, Galleri G, Sole G, Serru A, Orzalesi N, Serra A, Pirastu M: A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bucklers corneal dystrophy patients. Mutations in brief no. 180. Online.

    Hum Mutat 1998, 12:215-216. PubMed Abstract | Publisher Full Text OpenURL

  32. Thiel HJ, Behnke H: Ein bisher unbekannte subepitheliale hereditare Hornhautdystrophie.

    Klin Monatsbl Augenheilkd 1967, 150:862-874. PubMed Abstract OpenURL

  33. Perry HD, Fine BS, Caldwell DR: Reis-Bücklers dystrophy: a study of eight cases.

    Arch Ophthalmol 1979, 97:664-670. PubMed Abstract | Publisher Full Text OpenURL

  34. Dighiero P, Niel F, Ellies P, D'Hermies F, Savoldelli M, Renard G, Delpech M, Valleix S: Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene.

    Ophthalmology 2001, 108:818-823. PubMed Abstract | Publisher Full Text OpenURL

  35. Yee RW, Sullivan LS, Lai HT, Stock EL, Lu Y, Khan MN, Blanton SH, Daiger SP: Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23–q24.

    Genomics 1997, 46:152-154. PubMed Abstract | Publisher Full Text OpenURL

  36. Lewkojewa EF: Ueber einen Fall primärer Degenerationamyloidose der Kornea.

    Klin Monatsbl Augenheilkd 1930, 85:117-137. OpenURL

  37. Weber FL, Babel J: Gelatinous drop-like dystrophy. A form of primary corneal amyloidosis.

    Arch Ophthalmol 1980, 98:144-148. PubMed Abstract | Publisher Full Text OpenURL

  38. Klintworth GK, Sommer JR, Obrian G, Han L, Ahmed MN, Qumsiyeh MB, Lin PY, Basti S, Reddy MK, Kanai A, Hotta Y, Sugar J, Kumaramanickavel G, Munier F, Schorderet DF, El ML, Iwata F, Kaiser-Kupfer M, Nagata M, Nakayasu K, Hejtmancik JF, Teng CT: Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene.

    Mol Vis 1998, 4:31. PubMed Abstract | Publisher Full Text OpenURL

  39. Ren Z, Lin P-Y, Klintworth GK, Munier FL, Shorderet DF, el Matri L, Kaiser-Kupfer M, Hejtmancik JF: Mutations of the M1S1 gene on chromosome 1P in autosomal recessive gelatinous drop-like corneal dystrophy. [abstract].

    Proc Internat Soc Eye Res 2000, 71:S108P. OpenURL

  40. Lisch W, Steuhl KP, Lisch C, Weidle EG, Emmig CT, Cohen KL, Perry HD: A new, band-shaped and whorled microcystic dystrophy of the corneal epithelium.

    Am J Ophthalmol 1992, 114:35-44. PubMed Abstract OpenURL

  41. Lisch W, Buttner A, Oeffner F, Boddeker I, Engel H, Lisch C, Ziegler A, Grzeschik K: Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to Xp22.3.

    Am J Ophthalmol 2000, 130:461-468. PubMed Abstract | Publisher Full Text OpenURL

  42. Charles NC, Young JA, Kumar A, Grossniklaus HE, Palay DA, Bowers J, Green WR: Band-shaped and whorled microcystic dystrophy of the corneal epithelium.

    Ophthalmology 2000, 107:1761-1764. PubMed Abstract | Publisher Full Text OpenURL

  43. Robin SB, Epstein RJ, Kornmehl EW: Band-shaped, whorled microcystic corneal dystrophy.

    Am J Ophthalmol 1994, 117:543-544. PubMed Abstract OpenURL

  44. Hammar B, Bjorck E, Lagerstedt K, Dellby A, Fagerholm P: A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance.

    Acta Ophthalmol 2008, 86:758-763. PubMed Abstract | Publisher Full Text OpenURL

  45. Franceschetti A: Hereditäre rezidivierende Erosion der Hornhaut.

    Z Augenheilkd 1928, 66:309-316. OpenURL

  46. Hammar B, Börck E, Lind H, Lagerstedt K, Dellby A, Fagerholm P: Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis.

    Acta Ophthalmol 2008, 86:758-763. PubMed Abstract | Publisher Full Text OpenURL

  47. Valle O: Hereditary recurring corneal erosions. A familial study with special reference to Fuchs' dystrophy.

    Acta Ophthalmol (Copenh) 1967, 45:829-836. PubMed Abstract | Publisher Full Text OpenURL

  48. Wales HJ: A family history of corneal erosions.

    Trans Ophthalmol Soc (NZ) 1955, 8:77-78. OpenURL

  49. Feder RS, Jay M, Yue BY, Stock EL, O'Grady RB, Roth SI: Subepithelial mucinous corneal dystrophy. Clinical and pathological correlations.

    Arch Ophthalmol 1993, 111:1106-1114. PubMed Abstract | Publisher Full Text OpenURL

  50. Klintworth GK, Meyer R, Dennis R, Hewitt AT, Stock EL, Lenz ME, Hassell JR, Stark WJJ, Kuettner KE, Thonar EJ: Macular corneal dystrophy. Lack of keratan sulfate in serum and cornea.

    Ophthal Paediatr Genet 1986, 7:139-143. Publisher Full Text OpenURL

  51. Klintworth GK, Oshima E, al-Rajhi A, al-Saif A, Thonar EJ, Karcioglu ZA: Macular corneal dystrophy in Saudi Arabia: a study of 56 cases and recognition of a new immunophenotype.

    Am J Ophthalmol 1997, 124:9-18. PubMed Abstract OpenURL

  52. Thonar EJ, Lenz ME, Klintworth GK, Caterson B, Pachman LM, Glickman P, Katz R, Huff J, Kuettner KE: Quantification of keratan sulfate in blood as a marker of cartilage catabolism.

    Arthrit Rheum 1985, 28:1367-1376. Publisher Full Text OpenURL

  53. Thonar EJ, Meyer RF, Dennis RF, Lenz ME, Maldonado B, Hassell JR, Hewitt AT, Stark WJ Jr, Stock EL, Kuettner KE, Klintworth GK: Absence of normal keratan sulfate in the blood of patients with macular corneal dystrophy.

    Am J Ophthalmol 1986, 102:561-569. PubMed Abstract OpenURL

  54. Jonasson F, Johannsson JH, Garner A, Rice NS: Macular corneal dystrophy in Iceland.

    Eye 1989, 3:446-454. PubMed Abstract OpenURL

  55. Klintworth GK, Vogel FS: Macular corneal dystrophy: An inherited acid mucopolysaccharide storage disease of the corneal fibroblast.

    Am J Pathol 1964, 45:565-586. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  56. Jonasson F, Oshima E, Thonar EJ, Smith CF, Johannsson JH, Klintworth GK: Macular corneal dystrophy in Iceland. A clinical, genealogic, and immunohistochemical study of 28 patients.

    Ophthalmology 1996, 103:1111-1117. PubMed Abstract | Publisher Full Text OpenURL

  57. Akama TO, Nishida K, Nakayama J, Watanabe H, Ozaki K, Nakamura T, Dota A, Kawasaki S, Inoue Y, Maeda N, Yamamoto S, Fujiwara T, Thonar EJ, Shimomura Y, Kinoshita S, Tanigami A, Fukuda MN: Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene.

    Nat Genet 2000, 26:237-241. PubMed Abstract | Publisher Full Text OpenURL

  58. Liu NP, Dew-Knight S, Rayner M, Jonasson F, Akama TO, Fukuda MN, Bao W, Gilbert JR, Vance JM, Klintworth GK: Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland.

    Mol Vis 2000, 6:261-264. PubMed Abstract | Publisher Full Text OpenURL

  59. Klintworth GK, Smith CF, Bowling BL: CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review.

    Molecular Vision 2006, 12:159-176. PubMed Abstract | Publisher Full Text OpenURL

  60. Bao W, Smith CF, al-Rajhi A, Chandler JW, Karcioglu ZA, Akama TO, Fukuda MN, Klintworth GK: Novel mutations in the CHST6 gene in Saudi Arabic patients with macular corneal dystrophy.

    Invest Ophthalmol Vis Sci (Suppl) 2001, 42:S483. OpenURL

  61. Sultana A, Klintworth GK, Thonar EJ-MA, Vemuganti G, Kannabiran C: Correlation of immunophenotyps in macular corneal dystrophy in India with mutations in CHST6.

    Mol Vis 2009, in press. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  62. Møller HU: Granular corneal dystrophy Groenouw type I. Clinical aspects and treatment.

    Acta Ophthalmol (Copenh) 1990, 68:384-389. PubMed Abstract | Publisher Full Text OpenURL

  63. Klintworth GK, Valnickova Z, Enghild JJ: Accumulation of β ig-h3 gene product in corneas with granular dystrophy.

    Am J Pathol 1998, 152:743-748. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  64. Akiya S, Brown SI: Granular dystrophy of the cornea. Characteristic electron microscopic lesion.

    Arch Ophthalmol 1970, 84:179-192. PubMed Abstract | Publisher Full Text OpenURL

  65. Brownstein S, Fine BS, Sherman ME, Zimmerman LE: Granular dystrophy of the cornea. Light and electron microscopic confirmation of recurrence in a graft.

    Am J Ophthalmol 1974, 77:701-710. PubMed Abstract OpenURL

  66. Iwamoto T, Stuart JC, Srinivasan BD, Mund ML, Farris RL, Donn A, DeVoe AG: Ultrastructural variation in granular dystrophy of the cornea.

    Albrecht von Graefes Arch Klin Exp Ophthalmol 1975, 194:1-9. PubMed Abstract | Publisher Full Text OpenURL

  67. Møller HU: Granular corneal dystrophy Groenouw type I. 115 Danish patients. An epidemiological and genetic population study.

    Acta Ophthalmol (Copenh) 1990, 68:297-303. PubMed Abstract | Publisher Full Text OpenURL

  68. Korvatska E, Munier FL, Djemai A, Wang MX, Frueh B, Chiou AG, Uffer S, Ballestrazzi E, Braunstein RE, Forster RK, Culbertson WW, Boman H, Zografos L, Schorderet DF: Mutation hot spots in 5q31-linked corneal dystrophies.

    Am J Hum Genet 1998, 62:320-324. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  69. Munier FL, Korvatska E, Djemai A, Le Paslier D, Zografos L, Pescia G, Schorderet DF: Kerato-epithelin mutations in four 5q31-linked corneal dystrophies.

    Nat Genet 1997, 15:247-251. PubMed Abstract | Publisher Full Text OpenURL

  70. Blanco-Marchite C, Sanchez-Sanchez F, Lopez-Sanchez E, Escribano J: R124C and R555W TGFBI mutations in Spanish families with autosomal-dominant corneal dystrophies.

    Mol Vis 2007, 13:1390-1396. PubMed Abstract | Publisher Full Text OpenURL

  71. Akimune C, Watanabe H, Maeda N, Okada M, Yamamoto S, Kiritoshi A, Shimomura Y, Tano Y: Corneal guttata associated with the corneal dystrophy resulting from a betaig-h3 R124H mutation.

    Br J Ophthalmol 2000, 84:67-71. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  72. Konishi M, Yamada M, Nakamura Y, Mashima Y: Varied appearance of cornea of patients with corneal dystrophy associated with R124H mutation in the BIGH3 gene.

    Cornea 1999, 18:424-429. PubMed Abstract | Publisher Full Text OpenURL

  73. Holland EJ, Daya SM, Stone EM, Folberg R, Dobler AA, Cameron JD, Doughman DJ: Avellino corneal dystrophy. Clinical manifestations and natural history.

    Ophthalmology 1992, 99:1564-1568. PubMed Abstract | Publisher Full Text OpenURL

  74. Dogru M, Katakami C, Nishida T, Yamanaka A: Alteration of the ocular surface with recurrence of granular/avellino corneal dystrophy after phototherapeutic keratectomy: Report of five cases and literature review.

    Ophthalmology 2001, 108:810-817. PubMed Abstract | Publisher Full Text OpenURL

  75. Jun RM, Tchah H, Kim TI, Stulting RD, Jung SE, Seo KY, Lee DH, Kim EK: Avellino corneal dystrophy after LASIK.

    Ophthalmology 2004, 111:463-468. PubMed Abstract | Publisher Full Text OpenURL

  76. Lee JH, Stulting RD, Lee DH, Lee CS, Kim WC, Kim EK: Exacerbation of granular corneal dystrophy type II (Avellino corneal dystrophy) after LASEK.

    J Refract Surg 2008, 24:39-45. PubMed Abstract | Publisher Full Text OpenURL

  77. Feizi S, Pakravan M, Baradaran-Rafiee AR, Yazdani S: Granular corneal dystrophy manifesting after radial keratotomy.

    Cornea 2007, 26:1267-1269. PubMed Abstract | Publisher Full Text OpenURL

  78. Capoluongo E, De BG, Concolino P, Sepe M, Ambu R, Faa G, Sciandra F, Santonocito C, D'Alberto A, Caselli M, Brancaccio A: First genetic analysis of lattice corneal dystrophy type I in a family from Bulgaria.

    Eur J Ophthalmol 2005, 15:804-808. PubMed Abstract OpenURL

  79. Liu Z, Wang YQ, Gong QH, Xie LX: An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.

    Mol Vis 2008, 14:1234-1239. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  80. Meretoja J: Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome.

    Ann Clin Res 1969, 1:314-324. PubMed Abstract | Publisher Full Text OpenURL

  81. Eifrig DE Jr, Afshari NA, Buchanan HW IV, Bowling BL, Klintworth GK: Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the TGFBI (BIGH3) gene.

    Ophthalmology 2004, 111:1108-1114. PubMed Abstract | Publisher Full Text OpenURL

  82. Klintworth GK: Lattice corneal dystrophy. An inherited variety of amyloidosis restricted to the cornea.

    Am J Pathol 1967, 50:371-399. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  83. Konishi M, Yamada M, Nakamura Y, Mashima Y: Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene.

    Curr Eye Res 2000, 21:891-896. PubMed Abstract | Publisher Full Text OpenURL

  84. Meretoja J: Comparative histopathological and clinical findings in eyes with lattice corneal dystrophy of two different types.

    Ophthalmologica 1972, 165:15-37. PubMed Abstract | Publisher Full Text OpenURL

  85. Gorevic PD, Munoz PC, Rodrigues MM, Haltia M, Ghiso J, Frangione B: Shared gelsolin antigenicity between familial amyloidosis Finnish type (FAF) and one form of familial lattice corneal dystrophy (LCD) with polyneuropathy from the United States. In Amyloid and Amyloidosis. Edited by: Natvig JB, Forre Ol, Husby g, Husebekk A, Skogen B, Sletten K, Westermark P. Dordrecht: Kluwer Academic Publishers; 1991:423-435. OpenURL

  86. Rodrigues MM, Rajagopalan S, Jones K, Nirankari V, Wisniewski T, Frangione B, Gorevic PD: Gelsolin immunoreactivity in corneal amyloid, wound healing, and macular and granular dystrophies.

    Am J Ophthalmol 1993, 115:644-652. PubMed Abstract | Publisher Full Text OpenURL

  87. Hotta Y, Fujiki K, Ono K, Fujimaki T, Nakayasu K, Yamaguchi T, Kanai A: Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I.

    Jpn J Ophthalmol 1998, 42:450-455. PubMed Abstract | Publisher Full Text OpenURL

  88. Weiss JS: Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis).

    Trans Am Ophthalmol Soc 2007, 105:616-648. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  89. Weiss JS: Schnyder's dystrophy of the cornea. A Swede-Finn connection.

    Cornea 1992, 11:93-101. PubMed Abstract | Publisher Full Text OpenURL

  90. McCarthy M, Innis S, Dubord P, White V: Panstromal Schnyder corneal dystrophy. A clinical pathologic report with quantitative analysis of corneal lipid composition.

    Ophthalmology 1994, 101:895-901. PubMed Abstract OpenURL

  91. Yamada M, Mochizuki H, Kamata Y, Nakamura Y, Mashima Y: Quantitative analysis of lipid deposits from Schnyder's corneal dystrophy.

    Br J Ophthalmol 1998, 82:444-447. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  92. Gaynor PM, Zhang WY, Weiss JS, Skarlatos SI, Rodrigues MM, Kruth HS: Accumulation of HDL apolipoproteins accompanies abnormal cholesterol accumulation in Schnyder's corneal dystrophy.

    Arteriosclerosis Thrombosis and Vascular Biology 1996, 16:992-999. OpenURL

  93. Battisti C, Dotti MT, Malandrini A, Pezzella F, Bardelli AM, Federico A: Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts.

    Am J Med Genet 1998, 75:35-39. PubMed Abstract | Publisher Full Text OpenURL

  94. Mehta JS, Vithana EN, Venkataraman D, Venkatraman A, Poh R, Beuerman RW, Aung T, Tan DT: Analysis of conjunctival fibroblasts from a proband with Schnyder corneal dystrophy.

    Mol Vis 2008, 14:1277-1281. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  95. Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, White PS, Winters RS, Lisch W, Henn W, Denninger E, Krause M, Wasson P, Ebenezer N, Mahurkar S, Nickerson ML: Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.

    Invest Ophthalmol Vis Sci 2007, 48:5007-5012. PubMed Abstract | Publisher Full Text OpenURL

  96. Orr A, Dube MP, Marcadier J, Jiang H, Federico A, George S, Seamone C, Andrews D, Dubord P, Holland S, Provost S, Mongrain V, Evans S, Higgins B, Bowman S, Guernsey D, Samuels M: Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

    PLoS ONE 2007, 2:e685. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  97. Kiskaddon BM, Campbell RJ, Waller RR, Bourne WM: Fleck dystrophy of the cornea: case report.

    Ann Ophthalmol 1980, 12:700-704. OpenURL

  98. Nicholson DH, Green WR, Cross HE, Kenyon KR, Massof D: A clinical and histopathological study of Francois-Neetens speckled corneal dystrophy.

    Am J Ophthalmol 1977, 83:554-60. PubMed Abstract OpenURL

  99. Purcell JJ Jr, Krachmer JH, Weingeist TA: Fleck corneal dystrophy.

    Arch Ophthalmol 1977, 95:440-444. PubMed Abstract | Publisher Full Text OpenURL

  100. Li S, Tiab L, Jiao X, Munier FL, Zografos L, Frueh BE, Sergeev Y, Smith J, Rubin B, Meallet MA, Forster RK, Hejtmancik JF, Schorderet DF: Mutations in PIP5K3 are associated with Francois-Neetens mouchetee fleck corneal dystrophy.

    Am J Hum Genet 2005, 77:54-63. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  101. Bredrup C, Knappskog PM, Majewski J, Rodahl E, Boman H: Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.

    Invest Ophthalmol Vis Sci 2005, 46:420-426. PubMed Abstract | Publisher Full Text OpenURL

  102. Odland M: Dystrophia corneae parenchymatosa congenita. A clinical, morphological and histochemical examination.

    Acta Ophthalmol (Copenh) 1968, 46:477-485. PubMed Abstract | Publisher Full Text OpenURL

  103. Rødahl E, Van GR, Knappskog PM, Bredrup C, Boman H: A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy.

    Am J Ophthalmol 2006, 142:520-521. PubMed Abstract | Publisher Full Text OpenURL

  104. Carpel EF, Sigelman RJ, Doughman DJ: Posterior amorphous corneal dystrophy.

    Am J Ophthalmol 1977, 83:629-632. PubMed Abstract OpenURL

  105. Moshegov CN, Hoe WK, Wiffen SJ, Daya SM: Posterior amorphous corneal dystrophy. A new pedigree with phenotypic variation.

    Ophthalmology 1996, 103:474-478. PubMed Abstract | Publisher Full Text OpenURL

  106. Erdem U, Muftuoglu O, Hurmeric V: In vivo confocal microscopy findings in a patient with posterior amorphous corneal dystrophy.

    Clin Experiment Ophthalmol 2007, 35:99-102. PubMed Abstract | Publisher Full Text OpenURL

  107. Johnson AT, Folberg R, Vrabec MP, Florakis GJ, Stone EM, Krachmer JH: The pathology of posterior amorphous corneal dystrophy.

    Ophthalmology 1990, 97:104-109. PubMed Abstract | Publisher Full Text OpenURL

  108. Krachmer JH, Purcell JJ Jr, Young CW, Bucher KD: Corneal endothelial dystrophy. A study of 64 families.

    Arch Ophthalmol 1978, 96:2036-2039. PubMed Abstract | Publisher Full Text OpenURL

  109. Vithana EN, Morgan PE, Ramprasad V, Tan DT, Yong VH, Venkataraman D, Venkatraman A, Yam GH, Nagasamy S, Law RW, Rajagopal R, Pang CP, Kumaramanickevel G, Casey JR, Aung T: SLC4A11 mutations in Fuchs endothelial corneal dystrophy.

    Hum Mol Genet 2008, 17:656-666. PubMed Abstract | Publisher Full Text OpenURL

  110. Santo RM, Yamaguchi T, Kanai A, Okisaka S, Nakajima A: Clinical and histopathologic features of corneal dystrophies in Japan.

    Ophthalmology 1995, 102:557-567. PubMed Abstract | Publisher Full Text OpenURL

  111. Shah SS, al-Rajhi A, Brandt JD, Mannis MJ, Roos B, Sheffield VC, Syed NA, Stone EM, Fingert JH: Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family.

    Ophthalmic Genet 2008, 29:41-45. PubMed Abstract | Publisher Full Text OpenURL

  112. Jiao X, Sultana A, Garg P, Ramamurthy B, Vemuganti GK, Gangopadhyay N, Hejtmancik JF, Kannabiran C: Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11.

    J Med Genet 2007, 44:64-68. PubMed Abstract | Publisher Full Text OpenURL

  113. Ramprasad VL, Ebenezer ND, Aung T, Rajagopal R, Yong VH, Tuft SJ, Viswanathan D, El-Ashry MF, Liskova P, Tan DT, Bhattacharya SS, Kumaramanickavel G, Vithana EN: Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online.

    Hum Mutat 2007, 28:522-523. PubMed Abstract | Publisher Full Text OpenURL

  114. Sultana A, Garg P, Ramamurthy B, Vemuganti GK, Kannabiran C: Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy.

    Mol Vis 2007, 13:1327-1332. PubMed Abstract | Publisher Full Text OpenURL

  115. Vithana EN, Morgan P, Sundaresan P, Ebernezer ND, Tan DTH, Mohamed MD, Anard S, Khine KO, Venkataraman D, Yong VHK, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Ingleheran CF, Aung T: Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

    Nat Genet 2006, 38:755-757. PubMed Abstract | Publisher Full Text OpenURL

  116. Callaghan M, Hand CK, Kennedy SM, FitzSimon JS, Collum LM, Parfrey NA: Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct.

    Br J Ophthalmol 1999, 83:115-119. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  117. Hand CK, Harmon DL, Kennedy SM, FitzSimon JS, Collum LM, Parfrey NA: Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping.

    Genomics 1999, 61:1-4. PubMed Abstract | Publisher Full Text OpenURL

  118. Aldave AJ, Yellore VS, Bourla N, Momi RS, Khan MA, Salem AK, Rayner SA, Glasgow BJ, Kurtz I: Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11.

    Cornea 2007, 26:896-900. PubMed Abstract | Publisher Full Text OpenURL

  119. Desir J, Abramowicz M: Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome).

    Orphanet J Rare Dis 2008, 3:28. PubMed Abstract | BioMed Central Full Text | PubMed Central Full Text OpenURL

  120. Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway AA, McLeod SD, Sheffield VC, Stone EM, Schorderet DF, Black GC: Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.

    Human Mol Genet 2001, 10:2415-2423. Publisher Full Text OpenURL

  121. Mehta JS, Vithana EN, Tan DT, Yong VH, Yam GH, Law RW, Chong WG, Pang CP, Aung T: Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy.

    Invest Ophthalmol Vis Sci 2008, 49:184-188. PubMed Abstract | Publisher Full Text OpenURL

  122. Adamis AP, Filatov V, Tripathi BJ, Tripathi RC: Fuchs' endothelial dystrophy of the cornea.

    Surv Ophthalmol 1993, 38:149-168. PubMed Abstract | Publisher Full Text OpenURL

  123. Fuchs E: Dystrophia epithelialis corneae.

    Albrecht von Graefes Arch Klin Exp Ophthalmol 1910, 76:478-508. OpenURL

  124. Hirano K, Klintworth GK, Zhan Q, Bennett K, Cintron C: βig-h3 is synthesized by corneal epithelium and perhaps endotheliumin Fuchs' dystrophic corneas.

    Curr Eye Res 1996, 15:965-972. PubMed Abstract | Publisher Full Text OpenURL

  125. Sundin OH, Jun AS, Broman KW, Liu SH, Sheehan SE, Vito ECL, Stark WJ, Gottsch JD: Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13.

    Invest Ophthalmol Vis Sci 2006, 47:140-145. PubMed Abstract | Publisher Full Text OpenURL

  126. Sundin OH, Broman KW, Chang HH, Vito ECL, Stark WJ, Gottsch JD: A common locus for late-onset Fuchs corneal dystrophy maps to 18q21.2–q21.32.

    Invest Ophthalmol Vis Sci 2006, 47:3919-3926. PubMed Abstract | Publisher Full Text OpenURL

  127. Liskova P, Prescott Q, Bhattacharya SS, Tuft SJ: British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.

    Br J Ophthalmol 2007, 91:1717-1718. PubMed Abstract | Publisher Full Text OpenURL

  128. Cibis GW, Krachmer JA, Phelps CD, Weingeist TA: The clinical spectrum of posterior polymorphous dystrophy.

    Arch Ophthalmol 1977, 95:1529-1537. PubMed Abstract | Publisher Full Text OpenURL

  129. Koeppe L: Klinische Beobachtungen mit der Nernstspaltlampe und dem Hornhautmikroskop.

    Albrecht von Graefes Arch Klin Exp Ophthalmol 1916, 91:363-379. OpenURL

  130. Harissi-Dagher M, Dana MR, Jurkunas UV: Keratoglobus in association with posterior polymorphous dystrophy.

    Cornea 2007, 26:1288-1291. PubMed Abstract | Publisher Full Text OpenURL

  131. Boruchoff SA, Kuwabara T: Electron microscopy of posterior polymorphous degeneration.

    Am J Ophthalmol 1971, 72:879-887. PubMed Abstract OpenURL

  132. Rodrigues MM, Rajagopalan S, Jones KA: Dystrophies of the anterior and posterior cornea. In Pathobiology of Ocular Disease: A Dynamic Approach. 2nd edition. Edited by: Garner A, Klintworth GK. New York: Marcel Dekker; 1996:1189-1203. OpenURL

  133. Jirsova K, Merjava S, Martincova R, Gwilliam R, Ebenezer ND, Liskova P, Filipec M: Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients.

    Exp Eye Res 2007, 84:680-686. PubMed Abstract | Publisher Full Text OpenURL

  134. Heon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM: VSX1: A gene for posterior polymorphous dystrophy and keratoconus.

    Hum Mol Genet 2002, 11:1029-1036. PubMed Abstract | Publisher Full Text OpenURL

  135. Gwilliam R, Liskova P, Filipec M, Kmoch S, Jirsova K, Huckle EJ, Stables CL, Bhattacharya SS, Hardcastle AJ, Deloukas P, Ebenezer ND: Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene.

    Invest Ophthalmol Vis Sci 2005, 46:4480-4484. PubMed Abstract | Publisher Full Text OpenURL

  136. Krafchak CM, Pawar H, Moroi SE, Sugar A, Lichter PR, Mackey DA, Mian S, Nairus T, Elner V, Schteingart MT, Downs CA, Kijek TG, Johnson JM, Trager EH, Rozsa FW, Mandal MNA, Epstein MP, Vollrath D, Ayyagari R, Boehnke M, Richards JE: Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.

    Am J Hum Genet 2005, 77:694-708. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  137. Heon E, Mathers WD, Alward WL, Weisenthal RW, Sunden SL, Fishbaugh JA, Taylor CM, Krachmer JH, Sheffield VC, Stone EM: Linkage of posterior polymorphous corneal dystrophy to 20q11.

    Human Mol Genet 1995, 4:485-488. Publisher Full Text OpenURL

  138. Kanai A, Waltman S, Polack FM, Kaufman HE: Electron microscopic study of hereditary corneal edema.

    Invest Ophthalmol Vis Sci 1971, 10:89-99. OpenURL

  139. Levenson JE, Chandler JW, Kaufman HE: Affected asymptomatic relatives in congenital hereditary endothelial dystrophy.

    Am J Ophthalmol 1973, 76:967-971. PubMed Abstract OpenURL

  140. Judisch GF, Maumenee IH: Clinical differentiation of recessive congenital hereditary endothelial dystrophy and dominant hereditary endothelial dystrophy.

    Am J Ophthalmol 1978, 85:606-612. PubMed Abstract OpenURL

  141. Pearce WG, Tripathi RC, Morgan G: Congenital endothelial corneal dystrophy. Clinical, pathological, and genetic study.

    Br J Ophthalmol 1969, 53:577-591. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  142. Desir J, Moya G, Reish O, Van RN, Deconinck H, David KL, Meire FM, Abramowicz MJ: Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.

    J Med Genet 2007, 44:322-326. PubMed Abstract | Publisher Full Text OpenURL

  143. Cockerham GC, Laver NV, Hidayat AA, McCoy DL: An immunohistochemical analysis and comparison of posterior polymorphous dystrophy with congenital hereditary endothelial dystrophy.

    Cornea 2002, 21:787-791. PubMed Abstract | Publisher Full Text OpenURL

  144. McCartney AC, Kirkness CM: Comparison between posterior polymorphous dystrophy and congenital hereditary endothelial dystrophy of the cornea.

    Eye 1988, 2:63-70. PubMed Abstract OpenURL

  145. Vemuganti GK, Sridhar MS, Edward DP, Singh S: Subepithelial amyloid deposits in congenital hereditary endothelial dystrophy: a histopathologic study of five cases.

    Cornea 2002, 21:524-529. PubMed Abstract | Publisher Full Text OpenURL

  146. Mahmood MA, Teichmann KD: Corneal amyloidosis associated with congenital hereditary endothelial dystrophy.

    Cornea 2000, 19:570-573. PubMed Abstract | Publisher Full Text OpenURL

  147. Toma NMG, Ebenezer ND, Inglehearn CF, Plant C, Ficker LA, Bhattacharya SS: Linkage of congenital hereditary endothelial dystrophy to chromosome 20.

    Human Mol Genet 1995, 4:2395-2398. Publisher Full Text OpenURL

  148. Hemadevi B, Veitia RA, Srinivasan M, Arunkumar J, Prajna NV, Lesaffre C, Sundaresan P: Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy.

    Arch Ophthalmol 2008, 126:700-708. PubMed Abstract | Publisher Full Text OpenURL

  149. Lisch W: Primäre bandförmige Hornhautdegeneration und ihre Assoziation mit anderen erblichen Hornhautveränderungen.

    Klin Monatsbl Augenheilkd 1976, 169:717-727. PubMed Abstract OpenURL

  150. Schmid E, Lisch W, Philipp W, Lechner S, Gottinger W, Schlotzer-Schrehardt U, Muller T, Utermann G, Janecke AR: A new, X-linked endothelial corneal dystrophy.

    Am J Ophthalmol 2006, 141:478-487. PubMed Abstract | Publisher Full Text OpenURL

  151. Liakos GM, Casey TA: Posterior polymorphous keratopathy.

    Br J Ophthalmol 1978, 62:39-45. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL

  152. Liu Y, Peng X, Tan J, Darling DS, Kaplan HJ, Dean DC: Zeb1 mutant mice as a model of posterior corneal dystrophy.

    Invest Ophthalmol Vis Sci 2008, 49:1843-1849. PubMed Abstract | Publisher Full Text | PubMed Central Full Text OpenURL