101
Views
3
CrossRef citations to date
0
Altmetric
Case Report

An Unusual Presentation of Macular Corneal Dystrophy Associated with Uniparental Isodisomy and a Novel Leu173Pro Mutation

, , , , &
Pages 169-174 | Received 08 Feb 2007, Accepted 06 Apr 2007, Published online: 08 Jul 2009

REFERENCES

  • Krachmer J H, Mannis M J, Holland E J. Cornea, fundamentals, diagnosis and management, Second edition. Elsevier Mosby, St. Louis, MO 2005; Vol. One
  • Klintworth G K. The molecular genetics of the corneal dystrophies—current status. Front Biosci. May 1, 2003; 8: d687–713
  • Waring G O, 3rd, Rodrigues M M, Laibson P R. Corneal dystrophies. I. Dystrophies of the epithelium, Bowman's layer and stroma. Surv Ophthalmol Sep–Oct, 1978; 23(2)71–122
  • Aldave A J, Yellore V S, Thonar E J, et al. Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. Am J Ophthalmol. Mar, 2004; 137(3)465–473
  • Niel F, Ellies P, Dighiero P, et al. Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy. Invest Ophthalmol Vis Sci. Jul, 2003; 44(7)2949–2953
  • Sultana A, Sridhar M S, Jagannathan A, Balasubramanian D, Kannabiran C, Klintworth G K. Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India. Mol Vis. Dec 22, 2003; 9: 730–734
  • Yang C J, Sundar Raj N, Thonar E J, Klintworth G K. Immunohistochemical evidence of heterogeneity in macular corneal dystrophy. Am J Ophthalmol Jul 15, 1988; 106(1)65–71
  • Klintworth G K, Oshima E, al-Rajhi A, al-Saif A, Thonar E J, Karcioglu Z A. Macular corneal dystrophy in Saudi Arabia: A study of 56 cases and recognition of a new immunophenotype. Am J Ophthalmol Jul, 1997; 124(1)9–18
  • Cursiefen C, Hofmann-Rummelt C, Schlotzer-Schrehardt U, et al. Immunohistochemical classification of primary and recurrent macular corneal dystrophy in Germany: subclassification of immunophenotype I A using a novel keratan sulfate antibody. Exp Eye Res Nov, 2001; 73(5)593–600
  • Akama T O, Nishida K, Nakayama J, et al. Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene. Nat Genet Oct, 2000; 26(2)237–241
  • El-Ashry M F, Abd El-Aziz M M, Shalaby O, et al. Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. Am J Ophthalmol Jan, 2005; 139(1)192–193
  • Gruenauer-Kloevekorn C, Braeutigam S, Froster U, Duncker G IW. Molecular genetic findings and therapeutical options in a well examined German family with macular corneal dystrophy. Invest Ophthalmol Vis Sci 2005 2005; 46(E), Abstract 4931
  • Ha N T, Chau H M, Cungle X, et al. Identification of novel mutations of the CHST6 gene in Vietnamese families affected with macular corneal dystrophy in two generations. Cornea Aug, 2003; 22(6)508–511
  • Ha N T, Chau H M, Cungle X, et al. Mutation analysis of the carbohydrate sulfotransferase gene in Vietnamese with macular corneal dystrophy. Invest Ophthalmol Vis Sci. Aug, 2003; 44(8)3310–3316
  • Iida-Hasegawa N, Furuhata A, Hayatsu H, et al. Mutations in the CHST6 gene in patients with macular corneal dystrophy: immunohistochemical evidence of heterogeneity. Invest Ophthalmol Vis Sci. Aug, 2003; 44(8)3272–3277
  • Liu N P, Bao W, Smith C F, Vance J M, Klintworth G K. Different mutations in carbohydrate sulfotransferase 6 (CHST6) gene cause macular corneal dystrophy types I and II in a single sibship. Am J Ophthalmol Jun, 2005; 139(6)1118–1120
  • Sultana A, Sridhar M S, Klintworth G K, Balasubramanian D, Kannabiran C. Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy. Clin Genet Nov, 2005; 68(5)454–460
  • Warren J F, Aldave A J, Srinivasan M, et al. Novel mutations in the CHST6 gene associated with macular corneal dystrophy in southern India. Arch Ophthalmol Nov, 2003; 121(11)1608–1612
  • Liu N P, Dew-Knight S, Rayner M, et al. Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. Mol Vis Dec 13, 2000; 6: 261–264
  • El-Ashry M F, El-Aziz M M, Wilkins S, et al. Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. Invest Ophthalmol Vis Sci Feb, 2002; 43(2)377–382
  • Abbruzzese C, Kuhn U, Molina F, Rama P, De Luca M. Novel mutations in the CHST6 gene causing macular corneal dystrophy. Clin Genet Feb, 2004; 65(2)120–125
  • Klintworth G K, Smith C F, Bowling B L. CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review. Mol Vis. 2006; 12: 159–176
  • Liu N P, Smith C F, Bowling B L, Jonasson F, Klintworth G K. Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland. Mol Vis. 2006; 12: 1148–1152
  • Aldave A J, Sonmez B. Elucidating the molecular genetic basis of the corneal dystrophies: Are we there yet?. Arch Ophthalmol Feb, 2007; 125(2)177–186
  • Gal A, Li Y, Thompson D A, et al. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nat Genet Nov, 2000; 26(3)270–271
  • Pentao L, Lewis R A, Ledbetter D H, Patel P I, Lupski J R. Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Am J Hum Genet Apr, 1992; 50(4)690–699
  • Rivolta C, Berson E L, Dryja T P. Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. Arch Ophthalmol Nov, 2002; 120(11)1566–1571
  • Thompson D A, Gyurus P, Fleischer L L, et al. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Invest Ophthalmol Vis Sci Dec, 2000; 41(13)4293–4299
  • Thompson D A, McHenry C L, Li Y, et al. Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. Am J Hum Genet Jan, 2002; 70(1)224–229
  • Aldave A J, Gutmark J G, Yellore V S, et al. Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. Am J Ophthalmol Nov, 2004; 138(5)772–781
  • Damgaard D, Nissen P H, Jensen L G, et al. Detection of large deletions in the LDL receptor gene with quantitative PCR methods. BMC Med Genet Apr 20, 2005; 6: 15
  • Thonar E J, Lenz M E, Klintworth G K, et al. Quantification of keratan sulfate in blood as a marker of cartilage catabolism. Arthritis Rheum Dec, 1985; 28(12)1367–1376
  • Thonar E J, Meyer R F, Dennis R F, et al. Absence of normal keratan sulfate in the blood of patients with macular corneal dystrophy. Am J Ophthalmol Nov 15, 1986; 102(5)561–569
  • Thonar E J, Masuda K, Hauselmann H J, Uebelhart D, Lenz M E, Manicourt D H. Keratan sulfate in body fluids in joint disease. Acta Orthop Scand Suppl Oct, 1995; 266: 103–106
  • Chenna R, Sugawara H, Koike T, et al. Multiple sequence alignment with the Clustal series of programs. Nucleic Acids Res Jul 1, 2003; 31(13)3497–3500
  • Engel E. A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet 1980; 6(2)137–143
  • Rivolta C, Sharon D, De Angelis M M, Dryja T P. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet May 15, 2002; 11(10)1219–1227

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.