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

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