Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry

Esmee H. Runhart, Patty Dhooge, Magda Meester-Smoor, Jeroen Pas, Jan Willem R. Pott, Redmer van Leeuwen, Hester Y. Kroes, Arthur A. Bergen, Yvonne de Jong-Hesse, Alberta A. Thiadens, Mary J. van Schooneveld, Maria van Genderen, Camiel Boon, Caroline Klaver, L. Ingeborg van den Born, Frans P.M. Cremers, Carel B. Hoyng*

*Corresponding author for this work

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    Purpose: To assess the incidence of Stargardt disease (STGD1) and to evaluate demographics of incident cases.

    Methods: For this retrospective cohort study, demographic, clinical and genetic data of patients with a clinical diagnosis of STGD1 were registered between September 2010 and January 2020 in a nationwide disease registry. Annual incidence (2014-2018) and point prevalence (2018) were assessed on the basis of this registry.

    Results: A total of 800 patients were registered, 56% were female and 83% were of European ancestry. The incidence was 1.67-1.95:1,000,000 per year and the point prevalence in 2018 was approximately 1:22,000-1:19,000 (with and without 10% of potentially unregistered cases). Age at onset was associated with sex (p = 0.027, Fisher’s exact); 1.9x more women than men were observed (140 versus 74) amongst patients with an age at onset between 10 and 19 years, while the sex ratio in other age-at-onset categories approximated one. Late-onset STGD1 (≥45 years) constituted 33% of the diagnoses in 2014-2018 compared to 19% in 2004-2008. Diagnostic delay (≥2 years between the first documentation of macular abnormalities and diagnosis) was associated with older age of onset (p = 0.001, Mann–Whitney). Misdiagnosis for age-related macular degeneration (22%) and incidental STGD1 findings (14%) was common in patients with late-onset STGD1.

    Conclusion: The observed prevalence of STGD1 in real-world data was lower than expected on the basis of population ABCA4 allele frequencies. Late-onset STGD1 was more frequently diagnosed in recent years, likely due to higher awareness of its phenotype. In this pretherapeutic era, mis- and underdiagnosis of especially late-onset STGD1 and the role of sex in STGD1 should receive special attention.

    Original languageEnglish
    Pages (from-to)395-402
    Number of pages8
    JournalActa ophthalmologica
    Issue number4
    Publication statusPublished - Jun-2022


    • ABCA4
    • incidence
    • prevalence
    • Stargardt Disease
    • STGD1

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