Name of the disease (synonyms) CUGC for posterior polymorphous corneal dystrophy (PPCD).OMIM# of the disease 122000; 609141; 618031.Name of the analysed genes or DNA/chromosome segments OVOL2 (PPCD1); ZEB1 (PPCD3); GRHL2 (PPCD4).OMIM# of the gene(s) 616441; 189909; 608576. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in theOVOL2, ZEB1andGRHL2gene(s) in a diagnostic setting, predictive and parental settings and for risk assesment in relatives.

1st Faculty of Medicine Research Unit for Rare Diseases Department of Paediatrics and Adolescent Medicine Charles University and General University Hospital Prague Ke Karlovu 2 128 08 Prague 2 Czech Republic

Moorfields Eye Hospital London EC1V 2PD UK

UCL Institute of Ophthalmology London EC1V 9EL UK

Zobrazit více v PubMed

Krafchak CM, Pawar H, Moroi SE, Sugar A, Lichter PR, Mackey DA, et al. Mutations in PubMed PMC

Davidson AE, Liskova P, Evans CJ, Dudakova L, Noskova L, Pontikos N, et al. Autosomal-dominant corneal endothelial dystrophies CHED1 and PPCD1 are allelic disorders caused by non-coding mutations in the promoter of PubMed PMC

Liskova P, Dudakova L, Evans CJ, Rojas Lopez KE, Pontikos N, Athanasiou D, et al. Ectopic PubMed PMC

Chung DD, Frausto RF, Cervantes AE, Gee KM, Zakharevich M, Hanser EM, et al. Confirmation of the PubMed PMC

Liskova P, Evans CJ, Davidson AE, Zaliova M, Dudakova L, Trkova M, et al. Heterozygous deletions at the PubMed PMC

Dudakova L, Evans CJ, Pontikos N, Hafford-Tear NJ, Malinka F, Skalicka P, et al. The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis. Exp Eye Res. 2019;182:160–6. PubMed

Liskova P, Palos M, Hardcastle AJ, Vincent AL. Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3. JAMA Ophthalmol. 2013;131:1296–303. PubMed

Evans CJ, Liskova P, Dudakova L, Hrabcikova P, Horinek A, Jirsova K, et al. Identification of six novel mutations in PubMed

Wieben ED, Aleff RA, Tosakulwong N, Butz ML, Highsmith WE, Edwards AO, et al. A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. PLoS ONE. 2012;7:e49083. PubMed PMC

Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, et al. Missense mutations in PubMed

Sacchetti M, Mantelli F, Marenco M, Macchi I, Ambrosio O, Rama P. Diagnosis and management of iridocorneal endothelial Syndrome. Biomed Res Int. 2015;2015:763093. PubMed PMC

Liskova P, Tuft SJ, Gwilliam R, Ebenezer ND, Jirsova K, Prescott Q, et al. Novel mutations in the PubMed PMC

Gwilliam R, Liskova P, Filipec M, Kmoch S, Jirsova K, Huckle EJ, et al. Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the PubMed

Heon E, Mathers WD, Alward WL, Weisenthal RW, Sunden SL, Fishbaugh JA, et al. Linkage of posterior polymorphous corneal dystrophy to 20q11. Hum Mol Genet. 1995;4:485–8. PubMed

Aldave AJ, Ann LB, Frausto RF, Nguyen CK, Yu F, Raber IM. Classification of posterior polymorphous corneal dystrophy as a corneal ectatic disorder following confirmation of associated significant corneal steepening. JAMA Ophthalmol. 2013;131:1583–90. PubMed PMC