hereditary corneal dystrophies

Summary

Summary: Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.

Top Publications

  1. Chakravarthi S, Kannabiran C, Sridhar M, Vemuganti G. TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. Invest Ophthalmol Vis Sci. 2005;46:121-5 pubmed
    ..To identify mutations in the TGFBI gene in Indian patients with lattice corneal dystrophy (LCD) or granular corneal dystrophy (GCD) and to look for genotype-phenotype correlations...
  2. Capoluongo E, De Benedetti G, Concolino P, Sepe M, Ambu R, Faa G, et al. First genetic analysis of lattice corneal dystrophy type I in a family from Bulgaria. Eur J Ophthalmol. 2005;15:804-8 pubmed
    ..To report a new family belonging to a previously non-investigated geographic are a with a rare form of lattice corneal dystrophy (LCD)...
  3. Klintworth G. Corneal dystrophies. Orphanet J Rare Dis. 2009;4:7 pubmed publisher
    ..Other less debilitating or asymptomatic dystrophies do not warrant treatment. The prognosis varies from minimal effect on the vision to corneal blindness, with marked phenotypic variability...
  4. Blanco Marchite C, Sanchez Sanchez F, López Sánchez E, Escribano J. R124C and R555W TGFBI mutations in Spanish families with autosomal-dominant corneal dystrophies. Mol Vis. 2007;13:1390-6 pubmed
    ..Our results indicate that the genetic defects underlying corneal dystrophies in Spanish patients are similar to those found in other populations. ..
  5. Hammar B, Björck 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. 2009;87:659-65 pubmed publisher
    ..We describe a new type of autosomal-dominant corneal disorder with recurrent corneal erosions and subepithelial fibrosis not significantly affecting visual acuity. ..
  6. Li D, Qi Y, Wang L, Lin H, Zhou N, Zhao L. An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI. Mol Vis. 2008;14:1298-302 pubmed
    ..We speculate that this disorder is a variant of RBCD. This finding may expand our knowledge about RBCD and facilitate diagnosis of corneal dystrophies associated with atypical clinical features. ..
  7. Saito T, Nishida K, Nakayama J, Akama T, Fukuda M, Watanabe K, et al. Sulfation patterns of keratan sulfate in different macular corneal dystrophy immunophenotypes using three different probes. Br J Ophthalmol. 2008;92:1434-6 pubmed publisher
  8. Tian X, Liu Z, Li Q, Li B, Wang W, Xie P, et al. [Analysis of gene mutation in Chinese patients with Reis-Bücklers corneal dystrophy]. Zhonghua Yan Ke Za Zhi. 2005;41:239-42 pubmed
    ..The phenotype of Reis-Bücklers corneal dystrophy in both families belongs to the geographic type. Molecular genetic approach may be useful for the proper diagnosis of this type of corneal dystrophy. ..
  9. Wheeldon C, de Karolyi B, Patel D, Sherwin T, McGhee C, Vincent A. A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer. Mol Vis. 2008;14:1503-12 pubmed
    ..Although a Bowman's layer dystrophy, the phenotype in this pedigree does not closely conform to the classical diagnostic criteria for either CDB1 or CDB2, and therefore represents a novel phenotype-genotype correlation. ..

More Information

Publications97

  1. Taniguchi Y, Tsujikawa M, Hibino S, Tsujikawa K, Tanaka T, Kiridoushi A, et al. A novel missense mutation in a Japanese patient with gelatinous droplike corneal dystrophy. Am J Ophthalmol. 2005;139:186-8 pubmed
    ..We describe a novel mutation in one case of Japanese GDLD. The results confirm that the missense mutation L186P in the TACSTD2 gene is also responsible for the GDLD phenotype. ..
  2. Miller A, Solomon R, Bloom A, Palmer C, Perry H, Donnenfeld E. Prevention of recurrent Reis-Bücklers dystrophy following excimer laser phototherapeutic keratectomy with topical mitomycin C. Cornea. 2004;23:732-5 pubmed
    ..The use of topical MMC in conjunction with PTK may be a safe and effective treatment of Reis-Bücklers dystrophy and may be helpful in preventing recurrence of the disease. ..
  3. Harissi Dagher M, Dana M, Jurkunas U. Keratoglobus in association with posterior polymorphous dystrophy. Cornea. 2007;26:1288-91 pubmed
    ..We report the first case with clinical features of both keratoglobus and PPMD. This report brings forth the description of keratoglobus findings on Orbscan topography. ..
  4. Chen Y, Tseng S, Chao S. Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy. Cornea. 2005;24:928-32 pubmed
    ..Mutation at this area may account for the disruption of keratin filament assembly, leading to MCD. ..
  5. Yellore V, Khan M, Bourla N, Rayner S, Chen M, Sonmez B, et al. Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy. Mol Vis. 2007;13:1777-82 pubmed
    ..However, missense mutations in UBIAD1, located just outside of the originally described SCCD fine mapped region, were identified in each of the three families with SCCD, confirming that mutations in UBIAD1 are associated with SCCD. ..
  6. Li D, Qi Y, Han Q, Lin H, Zhao L, Zhang C. [Analysis of TGFBI gene mutation in a Chinese family with atypical Reis-Buckler corneal dystrophy]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009;26:245-8 pubmed publisher
    ..The G623D mutation of the TGFBI gene caused an atypical Reis-Buckler corneal dystrophy in this family. This mutation is reported in Chinese for the first time. ..
  7. Tanhehco T, Eifrig D, Schwab I, Rapuano C, Klintworth G. Two cases of Reis-Bücklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene. Arch Ophthalmol. 2006;124:589-93 pubmed
  8. Liu Z, Wang Y, Gong Q, Xie L. An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families. Mol Vis. 2008;14:1234-9 pubmed
    ..Clinical features of Chinese patients with the same R124C mutation are quite variable even within the same family. Molecular genetic analysis of TGFBI can offer a rapid, accurate diagnosis of patients with atypical corneal dystrophies. ..
  9. Tian X, Fujiki K, Zhang Y, Murakami A, Li Q, Kanai A, et al. A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene. Am J Ophthalmol. 2007;144:473-5 pubmed
    ..This case highlights the utility of molecular genetic analysis in differentiating corneal dystrophies associated with an atypical phenotype from nondystrophic conditions. ..
  10. Shah S, Al Rajhi A, Brandt J, Mannis M, Roos B, Sheffield V, et al. Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family. Ophthalmic Genet. 2008;29:41-5 pubmed publisher
    ..A novel SLC4A11 mutation (Thr271Met) is associated with autosomal recessive CHED in a pedigree from the Kingdom of Saudi Arabia and provides additional support that mutations in this gene cause disease. ..
  11. Jun R, Tchah H, Kim T, Stulting R, Jung S, Seo K, et al. Avellino corneal dystrophy after LASIK. Ophthalmology. 2004;111:463-8 pubmed
    ..Mechanical removal of the material from the interface does not prevent further visually significant deposits. Mitomycin C treatment, in conjunction with surgical removal of opacities, may be an effective treatment. ..
  12. Aldave A. VSX1 mutation and corneal dystrophies. Ophthalmology. 2005;112:170-1; author reply 171-2 pubmed
  13. Patel D, Grupcheva C, McGhee C. In vivo confocal microscopy of posterior polymorphous dystrophy. Cornea. 2005;24:550-4 pubmed
    ..As more data become available, these analyses may enable the formulation of prognostic and diagnostic criteria. ..
  14. Akhtar S, Bron A, Qin X, Creer R, Guggenheim J, Meek K. Gelatinous drop-like corneal dystrophy in a child with developmental delay: clinicopathological features and exclusion of the M1S1 gene. Eye (Lond). 2005;19:198-204 pubmed
    ..Increased epithelial permeability in GDLD may be explained in part by an altered membrane permeability of the superficial epithelial cells. An association with developmental delay has not been reported previously. ..
  15. Desir J, Moya G, Reish O, Van Regemorter N, Deconinck H, David K, et al. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. J Med Genet. 2007;44:322-6 pubmed
    ..Why some mutations cause hearing loss in addition to corneal dystrophy is presently unclear. These findings extend the implication of the SLC4A11 borate transporter beyond corneal dystrophy to perceptive deafness. ..
  16. Aldave A, Yellore V, Bourla N, Momi R, Khan M, Salem A, et al. Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11. Cornea. 2007;26:896-900 pubmed
  17. Liu N, Smith C, Bowling B, Jonasson F, Klintworth G. Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland. Mol Vis. 2006;12:1148-52 pubmed
    ..The findings fit the haplotype analysis that we reported previously in Icelandic MCD families and indicate that different mutations in CHST6 cause MCD type I and type II in Iceland. ..
  18. Funayama T, Mashima Y, Kawashima M, Yamada M. Lattice corneal dystrophy type III in patients with a homozygous L527R mutation in the TGFBI gene. Jpn J Ophthalmol. 2006;50:62-4 pubmed
  19. Alavi A, Elahi E, Tehrani M, Amoli F, Javadi M, Rafati N, et al. Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients. Invest Ophthalmol Vis Sci. 2007;48:4490-7 pubmed
    ..It is suggested that E227K may be a founder mutation in this population. Based on positions of known mutations in TACSTD2, significance of the thyroglobulin domain of the TACSTD2 protein in the pathogenesis of GDLD is suggested. ..
  20. Feizi S, Pakravan M, Baradaran Rafiee A, Yazdani S. Granular corneal dystrophy manifesting after radial keratotomy. Cornea. 2007;26:1267-9 pubmed
    ..Production and deposition of such abnormal material could be due to keratocyte activation after RK or proliferation and migration of epithelial cells with a tendency to express abnormal keratoepithelin. ..
  21. Yu P, Gu Y, Yang Y, Yan X, Chen L, Ge Z, et al. A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene. J Genet. 2006;85:73-6 pubmed
  22. Weiss J, Kruth H, Kuivaniemi H, Tromp G, Karkera J, Mahurkar S, et al. Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function. Am J Med Genet A. 2008;146A:271-83 pubmed publisher
    ..Protein analysis revealed structural and functional implications of SCCD mutations which may affect UBIAD1 function, ligand binding and interaction with binding partners, like apo E. ..
  23. Aldave A, Sonmez B. Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet?. Arch Ophthalmol. 2007;125:177-86 pubmed
  24. Pampukha V, Kravchenko S, Tereshchenko F, Livshits L, Drozhyna G. Novel L558P mutation of the TGFBI gene found in Ukrainian families with atypical corneal dystrophy. Ophthalmologica. 2009;223:207-14 pubmed publisher
    ..The mutation works on the protein level by disrupting an alpha-helix, which is crucial for the normal functioning of keratoepithelin. A novel L558P mutation in the TGFBI gene causes an atypical type of stromal CD. ..
  25. Yellore V, Papp J, Sobel E, Khan M, Rayner S, Farber D, et al. Replication and refinement of linkage of posterior polymorphous corneal dystrophy to the posterior polymorphous corneal dystrophy 1 locus on chromosome 20. Genet Med. 2007;9:228-34 pubmed
    ..A portion of this refined interval overlaps a more recently reported posterior polymorphous corneal dystrophy 1 interval, with only 20 known and predicted genes mapped to the 2.4 cM common interval. ..
  26. Zhang C, Zeng G, Lin H, Li D, Zhao L, Zhou N, et al. A novel mutation I522N within the TGFBI gene caused lattice corneal dystrophy I. Mol Vis. 2009;15:2498-502 pubmed
    ..We conclude that the novel mutation I522N causes lattice corneal dystrophy type I in the studied family. This is the first report of the I522N mutation within TGFBI in LCD I worldwide. ..
  27. Wang L, Wang Y, Qiu D, Ying M, Li N. [TGFBI gene mutations in three Chinese families with autosomal dominant corneal dystrophy]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009;26:179-82 pubmed publisher
    ..TGFBI gene mutations are the underlying molecular mechanism of the pathogenesis for corneal dystrophy. The R124 and H626 are the hot spots of TGFBI gene mutation in this disease. ..
  28. Vincent A, De Karolyi B, Patel D, Wheeldon C, McGhee C. TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients. Br J Ophthalmol. 2010;94:836-42 pubmed publisher
    ..A new genotype-phenotype association was also characterised. No mutations were identified in some individuals/pedigrees suggesting greater genetic heterogeneity than is currently known in this group of disorders. ..
  29. Tian X, Fujiki K, Li Q, Murakami A, Xie P, Kanai A, et al. Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy. Am J Ophthalmol. 2004;137:567-9 pubmed
    ..To report the genetic findings in a Chinese patient diagnosed with gelatinous droplike corneal dystrophy (GDLD)...
  30. Hu L, Xu F, Ma W, Zhang H, Sui R. R555W mutation of TGFbetaI related to granular corneal dystrophy in Chinese patients. Chin Med J (Engl). 2009;122:2691-4 pubmed
    ..Mutations in the transforming growth factor beta I (TGFBI) gene cause several types of autosomal-dominant corneal dystrophies. We investigated the role of this gene in a Chinese family affected by granular corneal dystrophy (GCD)...
  31. Aldave A, Yellore V, Principe A, Abedi G, Merrill K, Chalukya M, et al. Candidate gene screening for posterior polymorphous dystrophy. Cornea. 2005;24:151-5 pubmed
    ..The initial 3 genes chosen, ID1, BCL2L1, and VSX1, lie within the region on chromosome 20 to which the PPCD gene has been linked, and mutations in VSX1 have previously been identified in patients with PPCD...
  32. Aldave A, Rayner S, Kim B, Prechanond A, Yellore V. Unilateral lattice corneal dystrophy associated with the novel His572del mutation in the TGFBI gene. Mol Vis. 2006;12:142-6 pubmed
    ..To report a novel mutation in the TGFBI gene, c.1761_1763del (p.His572del), associated with a unilateral variant of lattice corneal dystrophy (LCD)...
  33. Tian X, Fujiki K, Wang W, Murakami A, Xie P, Kanai A, et al. Novel mutation (V505D) of the TGFBI gene found in a Chinese family with lattice corneal dystrophy, type I. Jpn J Ophthalmol. 2005;49:84-8 pubmed
    ..To report a novel V505D mutation of the human transforming growth factor beta-induced (TGFBI) gene found in a Chinese family with lattice corneal dystrophy, type I (LCDI)...
  34. El Kochairi I, Letovanec I, Uffer S, Munier F, Chaubert P, Schorderet D. Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophy. Mol Vis. 2006;12:461-6 pubmed
    ..To investigate the location and tissue-specificity of the pathologic keratoepithelin (KE) deposition in a patient with a keratoepithelinopathy (KEP), TGFBI/BIGH3-related corneal dystrophy...
  35. Clout N, Hohenester E. A model of FAS1 domain 4 of the corneal protein beta(ig)-h3 gives a clearer view on corneal dystrophies. Mol Vis. 2003;9:440-8 pubmed
    ..The integrin binding properties of beta(ig)-h3, described in several recent studies, have been analysed with respect to the beta(ig)-h3 structure...
  36. El Ashry M, Abd El Aziz M, Ficker L, Hardcastle A, Bhattacharya S, Ebenezer N. BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI. Eye (Lond). 2004;18:723-8 pubmed
    ..To report a Bangladeshi family displaying intrafamilial phenotypic heterogeneity of lattice corneal dystrophy type I (LCDI) and to identify the causative mutation...
  37. Yuan C, Reuland J, Lee L, Huang A. Optimized expression and refolding of human keratoepithelin in BL21 (DE3). Protein Expr Purif. 2004;35:39-45 pubmed
  38. Zenteno J, Santacruz Valdes C, Ramirez Miranda A. [Autosomal dominant granular corneal dystrophy caused by a TGFBI gene mutation in a Mexican family]. Arch Soc Esp Oftalmol. 2006;81:369-74 pubmed
    ..To describe the clinical data and the results of molecular analyses of the TGFBI gene in a patient with classic granular stromal corneal dystrophy (type I)...
  39. Nakagawa Asahina S, Fujiki K, Enomoto Y, Murakami A, Kanai A. [Case of late onset and isolated lattice corneal dystrophy with Asn544Ser (N544S) mutation of transforming growth factor beta-induced (TGFBI, BIGH3) gene]. Nippon Ganka Gakkai Zasshi. 2004;108:618-20 pubmed
    ..To report a case of lattice corneal dystrophy (LCD) with Asn544Ser (N544S) mutation of the transforming growth factor beta-induced (TGFBI) gene...
  40. Kobayashi A, Sugiyama K. In vivo laser confocal microscopy findings for Bowman's layer dystrophies (Thiel-Behnke and Reis-Bücklers corneal dystrophies). Ophthalmology. 2007;114:69-75 pubmed
    ..To investigate microstructures in patients with genetically confirmed Bowman's layer dystrophies (Thiel-Behnke or Reis-Bücklers corneal dystrophy) using an in vivo laser scanning confocal microscope...
  41. Sultana A, Garg P, Ramamurthy B, Vemuganti G, Kannabiran C. Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy. Mol Vis. 2007;13:1327-32 pubmed
    ..We screened 42 unrelated families with CHED2 in order to establish the spectrum of mutations in SLC4A11 and to look for genotype-phenotype correlations...
  42. Vithana E, Morgan P, Sundaresan P, Ebenezer N, Tan D, Mohamed M, et al. Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). Nat Genet. 2006;38:755-7 pubmed
    ..Mutations in SLC4A11, which encodes a membrane-bound sodium-borate cotransporter, cause loss of function of the protein either by blocking its membrane targeting or nonsense-mediated decay...
  43. Hosseini S, Herd S, Vincent A, Heon E. Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes. Mol Vis. 2008;14:71-80 pubmed
    ..As part of the analysis, the expression profile, transcript variants, and evolutionary conserved regions of VSX1, a key candidate gene within the linkage interval, were characterized...
  44. Aldave A, Rayner S, Principe A, Affeldt J, Katsev D, Yellore V. Analysis of fifteen positional candidate genes for Schnyder crystalline corneal dystrophy. Mol Vis. 2005;11:713-6 pubmed
    ..To identify the genetic basis of Schnyder crystalline corneal dystrophy (SCCD) through screening of positional candidate genes in affected patients...
  45. Li Y, Sun X, Ren H, Dong B, Wang Z, Sun X. Analysis of human transforming growth factor beta-induced gene mutation in corneal dystrophy. Chin Med J (Engl). 2004;117:1418-21 pubmed
    ..Corneal dystrophy is a group of inherited blinding diseases of the cornea. This study was to identify the mutations of the keratoepithelin (KE) gene for proper diagnosis of corneal dystrophy...
  46. Yu J, Zou L, He J, Liu N, Zhang W, Lu L, et al. [Analysis of mutation of BIGH3 gene in Chinese patients with corneal dystrophies]. Zhonghua Yan Ke Za Zhi. 2003;39:582-6 pubmed
    ..To study whether Chinese patients with various corneal dystrophy carry mutations in BIGH3 gene...
  47. Jiao X, Sultana A, Garg P, Ramamurthy B, Vemuganti G, Gangopadhyay N, et al. Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. J Med Genet. 2007;44:64-8 pubmed
  48. Hammar B, Björck E, Lagerstedt K, Dellby A, Fagerholm P. A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance. Acta Ophthalmol. 2008;86:758-63 pubmed publisher
  49. Krafchak C, Pawar H, Moroi S, Sugar A, Lichter P, Mackey D, et al. 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
  50. Jirsova K, Merjava S, Martincova R, Gwilliam R, Ebenezer N, Liskova P, et al. Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients. Exp Eye Res. 2007;84:680-6 pubmed
    ..The wide spectrum of CK expression is most probably not indicative of the transformation of endothelial cells to a distinct epithelial phenotype, but more likely reflects the modified differentiation of metaplastic epithelium...
  51. Hemadevi B, Veitia R, Srinivasan M, Arunkumar J, Prajna N, Lesaffre C, et al. Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy. Arch Ophthalmol. 2008;126:700-8 pubmed publisher
    ..To identify Solute Carrier family 4 (sodium borate cotransporter) member 11 (SLC4A11) gene mutations associated with autosomal recessive congenital hereditary endothelial dystrophy (CHED2)...
  52. Yoon M, Warren J, Holsclaw D, Gritz D, Margolis T. A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy. Br J Ophthalmol. 2004;88:752-6 pubmed
    ..To determine the disease causing gene defects in two patients with Meesmann's corneal dystrophy...
  53. Klintworth G, Bao W, Afshari N. Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family. Invest Ophthalmol Vis Sci. 2004;45:1382-8 pubmed
    ..To determine the genetic basis for lattice corneal dystrophy (LCD) in an extensively studied family...
  54. Kobayashi A, Fujiki K, Murakami A, Sugiyama K. In vivo laser confocal microscopy findings and mutational analysis for Schnyder's crystalline corneal dystrophy. Ophthalmology. 2009;116:1029-37.e1 pubmed publisher
  55. Desir J, Abramowicz M. Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome). Orphanet J Rare Dis. 2008;3:28 pubmed publisher
    ..Corneal transplantation produces a substantial visual gain and has a relatively good surgical prognosis. Audiometric monitoring should be offered to all patients with CHED2. Hearing aids may be necessary in adolescence...
  56. Li S, Tiab L, Jiao X, Munier F, Zografos L, Frueh B, et al. Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy. Am J Hum Genet. 2005;77:54-63 pubmed
    ..The histological and clinical characteristics of patients with CFD are consistent with biochemical studies of PIP5K3 that indicate a role in endosomal sorting...
  57. Sultana A, Klintworth G, Thonar E, Vemuganti G, Kannabiran C. Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6. Mol Vis. 2009;15:319-25 pubmed
    ..To determine the immunophenotypes of macular corneal dystrophy (MCD) in Indian patients and to correlate them with mutations in the carbohydrate 6-sulfotransferase (CHST6) gene...
  58. Chang L, Zhiqun W, Shijing D, Chen Z, Qingfeng L, Li L, et al. Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke corneal dystrophy. Arch Ophthalmol. 2009;127:641-4 pubmed publisher
    ..To analyze transforming growth factor beta-induced (TGFBI) gene mutations in 2 Chinese families with Thiel-Behnke corneal dystrophy (TBCD)...
  59. Yu P, Gu Y, Jin F, Hu R, Chen L, Yan X, et al. p.Ala546 > Asp and p.Arg555 > Trp mutations of TGFBI gene and their clinical manifestations in two large Chinese families with granular corneal dystrophy type I. Genet Test. 2008;12:421-5 pubmed publisher
    ..This study confirms that the p.Arg555 > Trp mutation is a frequent cause of CDGG1, and that the p.Ala546 > Asp mutation is also associated with this disease...
  60. Liskova P, Klintworth G, Bowling B, Filipec M, Jirsova K, Tuft S, et al. Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families. Ophthalmic Res. 2008;40:105-8 pubmed publisher
    ..To evaluate mutations in the transforming-growth-factor-beta-induced (TGFBI) gene in patients of Czech origin with autosomal dominant corneal dystrophies...
  61. Zhong X, Chen S, Huang W, Yang J, Chen X, Zhou Y, et al. Novel and known mutations of TGFBI, their genotype-phenotype correlation and structural modeling in 3 Chinese families with lattice corneal dystrophy. Mol Vis. 2010;16:224-30 pubmed
  62. Abbruzzese C, Kuhn U, Molina F, Rama P, De Luca M. Novel mutations in the CHST6 gene causing macular corneal dystrophy. Clin Genet. 2004;65:120-5 pubmed
    ..Two novel missense mutations and a polymorphism in the coding region of CHST6 gene were identified in patients with MCD type I. In one MCD II family, a homozygous deletion in the upstream region of CHST6 gene was found...
  63. Takaoka M, Nakamura T, Ban Y, Kinoshita S. Phenotypic investigation of cell junction-related proteins in gelatinous drop-like corneal dystrophy. Invest Ophthalmol Vis Sci. 2007;48:1095-101 pubmed
  64. Kumar A, Bhattacharjee S, Prakash D, Sadanand C. Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11. Mol Vis. 2007;13:39-46 pubmed
    ..The purpose of this study was to carry out genetic analysis of CHED2 in two Indian families...
  65. Kannabiran C, Klintworth G. TGFBI gene mutations in corneal dystrophies. Hum Mutat. 2006;27:615-25 pubmed
    ..Mutations at either of these two hotspots result in specific types of LCD or GCD. The majority of identified mutations involve residues in the fourth fasciclin-like domain of TGFBIp...
  66. El Ashry M, Abd El Aziz M, Shalaby O, Wilkins S, Poopalasundaram S, Cheetham M, et al. Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. Am J Ophthalmol. 2005;139:192-3 pubmed
    ..To identify the underlying mutations in two unrelated British families with macular corneal dystrophy (MCD) by screening the carbohydrate sulfotransferase (CHST6) gene...
  67. Sultana A, Sridhar M, Klintworth G, Balasubramanian D, Kannabiran C. Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy. Clin Genet. 2005;68:454-60 pubmed
    ..These data demonstrate a high degree of allelic heterogeneity of the CHST6 gene in patient populations with MCD from Southern India, where this disease may have a relatively higher prevalence than in outbred communities...
  68. Gwilliam R, Liskova P, Filipec M, Kmoch S, Jirsova K, Huckle E, et al. Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene. Invest Ophthalmol Vis Sci. 2005;46:4480-4 pubmed
    ..In the Czech Republic, PPCD is one of the most prevalent corneal dystrophies. The purpose of this study was to determine the chromosomal locus of PPCD in two large Czech families, by using linkage analysis...
  69. Chronister C, Wasilauski M. Recurrent corneal erosion (RCE) secondary to lattice dystrophy in a patient with acquired immune deficiency syndrome (AIDS). Optometry. 2005;76:713-9 pubmed
    ..Lattice dystrophy, RCE, and modifying approaches to the management of RCE in an HIV-positive or AIDS patient are reviewed...
  70. Morishige N, Chikama T, Ishimura Y, Nishida T, Takahashi M, Mashima Y. Unusual phenotype of an individual with the R124C mutation in the TGFBI gene. Arch Ophthalmol. 2004;122:1224-7 pubmed
  71. Klintworth G, Smith C, Bowling B. CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review. Mol Vis. 2006;12:159-76 pubmed
    ..To evaluate mutations in the carbohydrate sulfotransferase-6 (CHST6) gene in American subjects with macular corneal dystrophy (MCD)...
  72. Kobayashi A, Fujiki K, Murakami A, Kato T, Chen L, Onoe H, et al. Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. Jpn J Ophthalmol. 2004;48:195-8 pubmed
  73. Michaelides M, Bloch Zupan A, Holder G, Hunt D, Moore A. An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta. J Med Genet. 2004;41:468-73 pubmed
  74. Afshari N, Bahadur R, Eifrig D, Thogersen I, Enghild J, Klintworth G. Atypical asymmetric lattice corneal dystrophy associated with a novel homozygous mutation (Val624Met) in the TGFBI gene. Mol Vis. 2008;14:495-9 pubmed
    ..To evaluate the TGFBI gene and the encoded transforming growth factor beta-induced protein (TGFBIp) in a 47-year-old African-American patient with an unusual atypical asymmetric lattice corneal dystrophy (LCD)...
  75. Aldave A, Yellore V, Thonar E, Udar N, Warren J, Yoon M, et al. Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. Am J Ophthalmol. 2004;137:465-73 pubmed
    ..To further characterize the mutations within the CHST6 gene responsible for causing macular corneal dystrophy in a cohort of affected patients from the United States...
  76. Zhao X, Nakamura H, Subramanyam S, Stock L, Gillette T, Yoshikawa S, et al. Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy. Ophthalmology. 2007;114:e39-46 pubmed
    ..We studied the genetic basis of 2 cases of apparent spontaneous CDB mutations and attempted to determine if these are sporadic and inheritable mutations...
  77. Warren J, Aldave A, Srinivasan M, Thonar E, Kumar A, Cevallos V, et al. Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. Arch Ophthalmol. 2003;121:1608-12 pubmed
    ..To further characterize the role of the carbohydrate sulfotransferase (CHST6) gene in macular corneal dystrophy (MCD) through identification of causative mutations in a cohort of affected patients from southern India...
  78. Jing Y, Liu C, Wang L. A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy. Mol Vis. 2009;15:1580-8 pubmed
  79. Sridhar M, Sridhar U, Vemuganti G, Mandal A. Lattice corneal dystrophy type III with corneal fistula. A case report. Indian J Ophthalmol. 2004;52:236-8 pubmed
    ..The association of corneal fistula with lattice corneal dystrophy type III makes this a unique case...
  80. El Ashry M, Abd El Aziz M, Hardcastle A, Bhattacharya S, Ebenezer N. A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population. Ophthalmic Res. 2005;37:310-7 pubmed
    ..To identify the underlying mutations in our British families and sporadic patients with different types of corneal dystrophies (CDs) and to establish a phenotype-genotype correlation...
  81. Aldave A, Gutmark J, Yellore V, Affeldt J, Meallet M, Udar N, et al. Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. Am J Ophthalmol. 2004;138:772-81 pubmed
    ..To report a phenotypic variant of lattice corneal dystrophy associated with two missense changes, Ala546Asp and Pro551Gln, in the transforming growth factor-beta-induced gene (TGFBI)...
  82. Young R, Akama T, Liskova P, Ebenezer N, Allan B, Kerr B, et al. Differential immunogold localisation of sulphated and unsulphated keratan sulphate proteoglycans in normal and macular dystrophy cornea using sulphation motif-specific antibodies. Histochem Cell Biol. 2007;127:115-20 pubmed
    ..These antibodies will thus facilitate high-resolution investigations of phenotypic heterogeneity in support of genetic studies in this disease...
  83. Gruenauer Kloevekorn C, Braeutigam S, Heinritz W, Froster U, Duncker G. Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options. Graefes Arch Clin Exp Ophthalmol. 2008;246:1441-7 pubmed publisher
    ..The objective of this study was to investigate genotype-phenotype correlations, the consequences for surgical treatment, and the therapeutical options in patients with macular corneal dystrophy (MCD)...
  84. Lee J, Stulting R, Lee D, Lee C, Kim W, Kim E. Exacerbation of granular corneal dystrophy type II (Avellino corneal dystrophy) after LASEK. J Refract Surg. 2008;24:39-45 pubmed
    ..To report cases of granular corneal dystrophy type II (Avellino corneal dystrophy) that were exacerbated by uncomplicated laser epithelial keratomileusis (LASEK) for myopia...
  85. Aldave A, Yellore V, Yu F, Bourla N, Sonmez B, Salem A, et al. Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. Am J Med Genet A. 2007;143A:2549-56 pubmed
    ..In these families, the presence of apparently causative TCF8 mutations is associated with abdominal and inguinal hernias...
  86. Valleix S, Nedelec B, Rigaudiere F, Dighiero P, Pouliquen Y, Renard G, et al. H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family. Invest Ophthalmol Vis Sci. 2006;47:48-54 pubmed
    ..To elucidate the retinal dysfunction and the molecular basis of posterior polymorphous corneal dystrophy (PPCD) associated with macular dystrophy, both inherited in a dominant manner through a three-generation family...
  87. Schmid E, Lisch W, Philipp W, Lechner S, Gottinger W, Schlötzer Schrehardt U, et al. A new, X-linked endothelial corneal dystrophy. Am J Ophthalmol. 2006;141:478-487 pubmed
    ..To describe the clinical spectrum, the histopathologic findings obtained from one corneal button, and the genetic mapping of an X-linked endothelial corneal dystrophy (XECD)...
  88. Babu K, Murthy K. In vivo confocal microscopy in different types of posterior polymorphous dystrophy. Indian J Ophthalmol. 2007;55:376-8 pubmed
    ..Posterior polymorphous dystrophy is a rare corneal dystrophy, usually detected by chance. This case series describes the morphologic features in the three different types of posterior polymorphous dystrophy using confocal microscopy...