Built in close collaboration with patient associations, ERN-EYE is focused on rare eye diseases (RED) and involves 29 Hospitals in 13 Member States of the European Union (EU).
Articles
- Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
- Analysis of KERA in four families with cornea plana identifies two novel mutations
- An ontological foundation for ocular phenotypes and rare eye diseases
- Correction to: An ontological foundation for ocular phenotypes and rare eye diseases
- Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders
- Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
- Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations
- Central serous chorioretinopathy: Towards an evidence-based treatment guideline
- Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty
- The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis
- Multirater Validation of Peripapillary Hyperreflective Ovoid Mass-like Structures (PHOMS)
- Consensus clinical management guidelines for Alström syndrome
- Case for a new corticosteroid treatment trial in optic neuritis: review of updated evidence
- Hydroxychloroquine hitting the headlines-retinal considerations
- CUGC for posterior polymorphous corneal dystrophy (PPCD)
- CENTRAL RETINAL VEIN OCCLUSION IN OTHERWISE HEALTHY CHILDREN AND ADOLESCENTS: Association With Multigenetic Variants of Thrombophilia
- Keratoconus in Children: A Literature Review
- Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant.
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Details
- Publication date
- 8 February 2021