Scientific Publications

Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty

Professional(s) : Petra Liskova

Center(s) : Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic

Working group(s) : Anterior Segment Rare Eye Diseases (WG4)

An ontological foundation for ocular phenotypes and rare eye diseases

Professional(s) : Hélène Dollfus

Center(s) : CARGO, Hôpitaux Universitaires de Strasbourg, France

Case for a new corticosteroid treatment trial in optic neuritis: review of updated evidence

Professional(s) : Axel PETZOLD, Russell Wheeler

Center(s) : Amsterdam University Medical Center / Leiden University Medical Center

Working group(s) : Neuro-Ophthalmology Rare Diseases (WG2)

Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis

Professional(s) : Axel PETZOLD, Paul Friedemann

Center(s) : Amsterdam University Medical Center / Leiden University Medical Center ; Charité - Universitätsmedizin Berlin, Germany

Working group(s) : Retinal Rare Eye Diseases (WG1)

Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus

Professional(s) : Elfride DE BAERE, Susanne KOHL

Center(s) : Ghent University Hospital, Ghent, Belgium ; Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany

Working group(s) : Genetic Diagnostics (TWG6) , Research (TWG8)

Analysis of KERA in four families with cornea plana identifies two novel mutations

Professional(s) : Petra Liskova, Bart LEROY

Center(s) : Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic ; Ghent University Hospital, Ghent, Belgium

Working group(s) : Anterior Segment Rare Eye Diseases (WG4)

The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis

Professional(s) : Petra Liskova

Center(s) : Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic

Working group(s) : Anterior Segment Rare Eye Diseases (WG4)

CUGC for posterior polymorphous corneal dystrophy (PPCD)

Professional(s) : Petra Liskova

Center(s) : Center of Clinical Ophthalmic Genetics, Department of Ophthalmology, General University Hospital in Prague, Czech Republic

Working group(s) : Anterior Segment Rare Eye Diseases (WG4)

CENTRAL RETINAL VEIN OCCLUSION IN OTHERWISE HEALTHY CHILDREN AND ADOLESCENTS: Association With Multigenetic Variants of Thrombophilia

Professional(s) : Dominique BREMOND-GIGNAC, Alejandra Daruich-Matet, Katarzyna Nowomiejska, Robert REJDAK

Center(s) : OPHTARA - AP-HP, Hôpital Necker-Enfants Malades, Paris, France ; Medical University of Lublin, Lublin, Poland

Working group(s) : Pediatric Ophthalmology Rare Diseases (WG3)

Vascular Changes in the Macula of Patients after Previous Episodes of Vision Loss Due to Leber Hereditary Optic Neuropathy and Non-Arteritic Ischemic Optic Neuropathy

Professional(s) : Katarzyna Nowomiejska, Robert REJDAK

Center(s) : Medical University of Lublin, Lublin, Poland

Working group(s) : Retinal Rare Eye Diseases (WG1)