Monitoring: Thank you to all ERN-EYE Full Members and Affiliated Partners!

The monitoring for 2022 has been successfully completed and submitted.

According to the information we have received from you, a total of about 20 700 new patients out of about 65 500 total patients were referred to ERN-EYE HCPs with diseases/conditions that fall within the scope of ERN-EYE in 2022.

Following articles were published in 2022 with ERN-EYE acknowledgement clearly stated and among authors affiliated to ERN-EYE HCPs from ≥2 EU countries:

• Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
• Diagnosis and classification of optic neuritis
• Evaluation of Local Rod and Cone Function in Stargardt Disease
• Longitudinal Changes of Fixation Stability and Location Within 24 Months in Stargardt Disease: ProgStar Report No. 16
• Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
• Neurotrophic Keratitis Due to Congenital Corneal Anesthesia with Deafness, Hypotonia, Intellectual Disability, Face Abnormality and Metabolic Disorder: A New Syndrome?
• Novel Clinical Observations and Genetic Spectrum in 340 Patients
• Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
• Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series
• Outcome of Cataract Surgery in Patients With Retinitis Pigmentosa
• Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity
• Recommendations for whole genome sequencing in diagnostics for rare diseases
• RNA-based therapies in inherited retinal diseases
• The European Reference Networks for rare and complex diseases respond to the Ukrainian crisis
• The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
• The Natural History of Leber Congenital Amaurosis and ConeeRod Dystrophy Associated with Variants in the GUCY2D Gene
• The RUSH2A Study: Dark-Adapted Visual Fields in Patients With Retinal Degeneration Associated With Biallelic Variants in the USH2A Gene