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Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants

26 Jun 2025

Abstract excerpt

Aims This study aims to assess clinical and genetic characteristics as well as the prevalence of inherited retinal dystrophies (IRD) and their subphenotypes in the Finnish founder population. Methods A retrospective analysis of clinical and genetic data from Northern Finnish patients diagnosed with IRD between 1996 and 2023 at Oulu University Hospital, Finland, was conducted. Results The cohort comprised 582...

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PMID: 40571344
DOI: 10.1136/bjo-2025-327427

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