A nationwide overview of the clinical and genetic landscape of inherited eye disorders in Denmark

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PURPOSE: To provide the first comprehensive, overview of the Danish Family Archive for Genetic Eye Diseases, a national umbrella registry on inherited eye disorders initiated in 1985. METHODS: A cross-sectional extraction of entries collected over 40 years was performed on 1 May 2025. Core variables included family identifier, clinical diagnosis, and genetic results. Descriptive statistics were generated within a secure registry environment. RESULTS: The registry contained 10,377 affected individuals from 3,412 unique families. Seventy-four distinct clinical diagnoses were documented; retinitis pigmentosa (1,709 cases) was the most frequent, followed by congenital cataract (1,220), autosomal dominant optic atrophy (1,077), congenital stationary night blindness (649) and Stargardt disease (555). Genetic data revealed 260 different disease-associated genes, the most prevalent being OPA1 (318 cases), ABCA4 (276), and USH2A (150). A confirmed genetic etiology was established for 2 972 individuals (28.6%) and in 2,052 families (60.9%). Syndromic involvement was recorded in 13%. CONCLUSIONS: The Danish Family Archive offers an unparalleled, nationwide overview of inherited eye disorders, confirming substantial diagnostic and genotypic heterogeneities. The registry data already accelerate clinical work-up and precision genetic counseling and enable rapid identification of well phenotyped and genotyped candidates for emerging therapies and clinical trials.

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