Unusual presentation of presumed posterior polymorphous dystrophy associated with iris heterochromia, band keratopathy, and keratoconus

Cornea

Volumn 29, Issue 10, 2010, Pages 1180-1185

  Lam, Helene Y ^a,b   Wiggs, Janey L ^a,b,c   Jurkunas, Ula V ^a,b,c  

^a MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c SCHEPENS EYE RESEARCH INSTITUTE   (United States)

Author keywords

band keratopathy; keratoconus; Posterior polymorphous dystrophy; VSX 1

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CONFOCAL MICROSCOPY; CORNEA DYSTROPHY; CORNEA EDEMA; ELECTRORETINOGRAPHY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HETEROCHROMIA IRIDIS; HUMAN; IRIS DISEASE; KERATOCONUS; KERATOMETRY; KERATOPATHY; MALE; MUTATIONAL ANALYSIS; PENETRANCE; PHENOTYPE; POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY; PRIORITY JOURNAL; VISUAL IMPAIRMENT; VISUAL SYSTEM EXAMINATION; VISUAL SYSTEM HOMEOBOX 1 GENE;

CALCINOSIS; COLLAGEN TYPE VIII; CORNEAL DISEASES; CORNEAL DYSTROPHIES, HEREDITARY; CORNEAL TOPOGRAPHY; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; HOMEODOMAIN PROTEINS; HUMANS; IRIDOCYCLITIS; KERATOCONUS; MALE; MICROSCOPY, CONFOCAL; PEDIGREE; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 77958153655     PISSN: 02773740     EISSN: None     Source Type: Journal    
DOI: 10.1097/ICO.0b013e3181d007e1     Document Type: Article

References (26)

1. Waring GO, Rodrigues MM, Laibson PR. Corneal dystrophies. II. Endothelial dystrophies. Surv Ophthalmol. 1978;23:147-168.
2. Bourgeois J, Shields MB, Thresher R. Open-angle glaucoma associated with posterior polymorphous dystrophy: a clinicopathologic study. Ophthalmology. 1984;91:420-423. (Pubitemid 14136375)
3. Cibis GW, Krachmer JH, Phelps CD, et al. Iridocorneal adhesions in posterior polymorphous corneal dystrophy. Trans Am Ophthalmol Soc. 1976;81:770-777.
4. Krachmer J. Posterior polymorphous corneal dystrophy: a disease characterized by epithelial-like endothelial cells which influence management and prognosis. Trans Am Ophthalmol Soc. 1985;83: 413-475. (Pubitemid 17210928)
5. Brooks AM, Grant G, Gillies WE. Differentiation of posterior polymorphous dystrophy from other posterior corneal opacities by specular microscopy. Ophthalmology. 1989;96:1639-1645. (Pubitemid 19272360)
6. Patel DV, Grupcheva CN, McGhee CN. In vivo confocal microscopy of posterior polymorphous dystrophy Cornea. 2005;24:550-554.
7. Shields M. Progressive essential iris atrophy, Chandler's syndrome, and the iris nevus (Cogan-Reese) syndrome: a spectrum of disease. Surv Ophthalmol. 1979;24:3-20. (Pubitemid 10219980)
8. Hirst LW, Quigley HA, Stark WJ, et al. Specular microscopy of iridocorneal endothelial syndrome. Am J Ophthalmol. 1980;89:11-21. (Pubitemid 10160100)
9. Grupcheva CN, McGhee CN, Dean S, et al. In vivo confocal microscopic characteristics of iridocorneal endothelial syndrome. Clin Experiment Ophthalmol. 2004;32:275-283. (Pubitemid 38930988)
10. Eagle RC, Font RL, Yanoff M, et al. Proliferative endotheliopathy with iris abnormalities. Arch Ophthalmol. 1979;97:2104-2111.
11. Wilson MC, Shields MB. A comparison of the clinical variations of the iridocorneal endothelial syndrome. Arch Ophthalmol. 1989;107: 1465-1468. (Pubitemid 19247249)
12. Heon E, Mathers WD, Alward WL, et al. Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet. 1995;4: 485-488.
13. Heon E, Greenberg A, Kopp KK, et al. VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet. 2002;11: 1029-1036. (Pubitemid 34521084)
14. Aldave AJ, Yellore VS, Principe AH, et al. Candidate gene screening for posterior polymorphous dystrophy. Cornea. 2005;24:151-155. (Pubitemid 40283825)
15. Gwilliam R, Liskova P, Filipec M, et al. Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene. Invest Ophthalmol Vis Sci. 2005;46:4480-4484. (Pubitemid 44264542)
16. Hosseini SM, Herd S, Vincent AL, et al. Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes. Mol Vis. 2008;14:71-80.
17. Biswas S, Munier FL, Yardley J, 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. 2001;10: 2415-2423. (Pubitemid 33069547)
18. Shimizu S, Krafchak C, Fuse N, et al. A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10. Am J Med Genet A. 2004;130:372-377. (Pubitemid 39441612)
19. Krafchak C, Pawar H, Moroi SE, 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. (Pubitemid 41513274)
20. Liskova P, Tuft SJ, Gwilliam R, et al. Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy. Hum Mutat. 2007;28:638.
21. Aldave AJ, Yellore VS, Yu F, et al. Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia. Am J Med Genet A. 2007;143A:2549-2556. (Pubitemid 350058167)
22. Toma NM, Ebenezer ND, Inglehearn CF, et al. Linkage of congenital hereditary endothelial dystrophy to chromosome 20. Hum Mol Genet. 1995;4:2395-2398.
23. Blair SD, Seabrooks D, Shields WJ, et al. Bilateral progressive essential iris atrophy and keratoconus with coincident features of posterior polymorphous dystrophy: a case report and proposed pathogenesis. Cornea. 1992;11:255-261.
24. DeRespinis PA, Norden RA, Rispoli LC. Posterior polymorphous dystrophy associated with astigmatism and amblyopia in children. J Refract Surg. 1996;12:709-714.
25. Weissman BA, Ehrlich M, Levenson JE, et al. Four cases of keratoconus and posterior polymorphous corneal dystrophy. Optom Vis Sci. 1988;66: 243-246. (Pubitemid 19121145)
26. Gasset AR, Zimmerman TJ. Posterior polymorphous dystrophy associated with keratoconus. Am J Ophthalmol. 1974;78:535-537.