Member info
PhD Bohdan Kousal
Substitute
Czech Republic
Working Group(s): Retinal Rare Eye Diseases (WG1), Neuro-Ophthalmology Rare Diseases (WG2), Pediatric Ophthalmology Rare Diseases (WG3), Research (TWG8)
Team
Dr Petra Liskova
Czech Republic
Anterior Segment Rare Eye Diseases (WG4), Genetic Diagnostics (TWG6), National Integration (TWG9), Neuro-Ophthalmology Rare Diseases (WG2), Pediatric Ophthalmology Rare Diseases (WG3), Research (TWG8), Retinal Rare Eye Diseases (WG1)
Working Group Leader
Dr Pavel Diblik
Czech Republic
Neuro-Ophthalmology Rare Diseases (WG2), Pediatric Ophthalmology Rare Diseases (WG3), Retinal Rare Eye Diseases (WG1)
Dr Marek Fichtl
Czech Republic
Anterior Segment Rare Eye Diseases (WG4), Neuro-Ophthalmology Rare Diseases (WG2)
Dr Marcela Michalickova
Czech Republic
Genetic Diagnostics (TWG6), Pediatric Ophthalmology Rare Diseases (WG3), Registries & Epidemiology (TWG7), Research (TWG8)
Dr Pavlina Skalicka
Czech Republic
Anterior Segment Rare Eye Diseases (WG4), Pediatric Ophthalmology Rare Diseases (WG3), Research (TWG8)
Dr Marie Vajter
Czech Republic
Anterior Segment Rare Eye Diseases (WG4), Genetic Diagnostics (TWG6), Neuro-Ophthalmology Rare Diseases (WG2), Pediatric Ophthalmology Rare Diseases (WG3), Registries & Epidemiology (TWG7), Research (TWG8), Retinal Rare Eye Diseases (WG1)
Dr Lukas Huna
Czech Republic
Anterior Segment Rare Eye Diseases (WG4), Genetic Diagnostics (TWG6), Low Vision Daily Life and Patients Groups (TWG5)
Dr Helena Kabesova
Czech Republic
Anterior Segment Rare Eye Diseases (WG4), CPMS & Digital Medecine (TWG10), Genetic Diagnostics (TWG6), Low Vision Daily Life and Patients Groups (TWG5), National Integration (TWG9), Neuro-Ophthalmology Rare Diseases (WG2), Pediatric Ophthalmology Rare Diseases (WG3), Registries & Epidemiology (TWG7), Research (TWG8), Retinal Rare Eye Diseases (WG1)
HCP Center
The General University Hospital in Prague is one of the biggest healthcare facilities in the Czech Republic. It provides basic, specialized and very...
contact
Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic
U Nemocnice 499/2
128 08 Prague
Czech Republic
Scientific publications
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
Van de Sompele et al. used multiomics profiling and in vitro and in vivo enhancer assays to dissect the regulatory mechanisms underlying North...
Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation
We aim to report the ocular phenotype and molecular genetic findings in two Czech families with Sorsby fundus dystrophy and to review all the...