KEGG DISEASE: Posterior polymorphous corneal dystrophy

DISEASE: Posterior polymorphous corneal dystrophy

Entry

H00961                      Disease

Name

Posterior polymorphous corneal dystrophy

Description

Posterior polymorphous corneal dystrophy (PPCD) is a very rare, bilateral autosomal dominant disorder affecting primarily the innermost corneal layers, Descemet membrane (DM), and the endothelium, biomicroscopically presenting as geographical lesions, bands, and vesicles. It primarily affects the corneal endothelium to produce epithelial-like transformation and irregular thickening of DM due to the deposition of an abnormal collagenous layer. Most cases are static, but occasionally rapid progression can result in severe visual disability from secondary glaucoma or corneal edema. Several genes have been reported as causing PPCD.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
    LA11  Structural developmental anomalies of the anterior segment of eye
     H00961  Posterior polymorphous corneal dystrophy

Gene

(PPCD1) OVOL2 [HSA:58495] [KO:K09216]
(PPCD2) COL8A2 [HSA:1296] [KO:K23455]
(PPCD3) ZEB1 [HSA:6935] [KO:K09299]
(PPCD4) GRHL2 [HSA:79977] [KO:K09275]

Other DBs

ICD-11:

LA11.5

ICD-10:

Q13.3

MeSH:

C562745

OMIM:

122000 609140 609141 618031

Reference

PMID:18097987

Authors

Ciralsky J, Colby K

Title

Congenital corneal opacities: a review with a focus on genetics.

Journal

Semin Ophthalmol 22:241-6 (2007)
DOI:10.1080/08820530701745157

Reference

PMID:21695473

Authors

Merjava S, Malinova E, Liskova P, Filipec M, Zemanova Z, Michalova K, Jirsova K

Title

Recurrence of posterior polymorphous corneal dystrophy is caused by the overgrowth of the original diseased host endothelium.

Journal

Histochem Cell Biol 136:93-101 (2011)
DOI:10.1007/s00418-011-0830-2

Reference

PMID:21067486

Authors

Liskova P, Filipec M, Merjava S, Jirsova K, Tuft SJ

Title

Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene.

Journal

Ophthalmic Genet 31:230-4 (2010)
DOI:10.3109/13816810.2010.518577

Reference

PMID:28046031

Authors

Chung DD, Frausto RF, Cervantes AE, Gee KM, Zakharevich M, Hanser EM, Stone EM, Heon E, Aldave AJ

Title

Confirmation of the OVOL2 Promoter Mutation c.-307T-C in Posterior Polymorphous Corneal Dystrophy 1.

Journal

PLoS One 12:e0169215 (2017)
DOI:10.1371/journal.pone.0169215

Reference

PMID:16303937

Authors

Gwilliam R, Liskova P, Filipec M, Kmoch S, Jirsova K, Huckle EJ, Stables CL, Bhattacharya SS, Hardcastle AJ, Deloukas P, Ebenezer ND

Title

Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene.

Journal

Invest Ophthalmol Vis Sci 46:4480-4 (2005)
DOI:10.1167/iovs.05-0269

Reference

PMID:29499165

Authors

Liskova P, Dudakova L, Evans CJ, Rojas Lopez KE, Pontikos N, Athanasiou D, Jama H, Sach J, Skalicka P, Stranecky V, Kmoch S, Thaung C, Filipec M, Cheetham ME, Davidson AE, Tuft SJ, Hardcastle AJ

Title

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

Journal

Am J Hum Genet 102:447-459 (2018)
DOI:10.1016/j.ajhg.2018.02.002

» Japanese version

All links

Disease (4)   
   OMIM (4)   
Gene (8)   
   KEGG ORTHOLOGY (4)   
   KEGG GENES (4)   
Literature (6)   
   PubMed (6)   
All databases (18)   

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