New Publication: Insights into RP2-associated retinopathy: From molecular basis to clinical translation

The header identifies the authors as “Bögershausen et al.” and gives the publication title, “Insights into RP2-associated retinopathy: From molecular basis to clinical translation”, followed by “Human Mutation, 2026”. The InsightRP2 logo — a stylised eye containing a DNA symbol — and website address, www.insight-rp2.org, appear on the right. The main section is headed “Retinopathy caused by pathogenic variants in RP2”. Beneath this heading, three connecting lines lead to three parallel columns. Read from left to right, these present the review’s three areas of focus rather than sequential steps: The left-hand column is labelled “Outlining current knowledge” and lists: Natural history, Clinical hallmarks, Genetic basis, Protein function, Therapeutic advances. The central column is labelled “Analyzing published RP2 variants” and lists: ClinVar data extraction, Variant distribution across exons, Variant types per exon, Variant type composition of ACMG/AMP classes 3–5. The right-hand column is labelled “Highlighting unmet needs” and lists: Trial readiness, Endpoint development, Functional missense variant interpretation, Clinical follow-up protocol. A concluding statement spans the footer beneath all three columns: “Our review presents an integrated picture of the current knowledge on RP2-associated retinopathy and highlights key gaps and unmet needs.”