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

info:eu-repo/semantics/OpenAccess ;ISSN: 1755-375X ;EISSN: 1755-3768

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  • Title:
    Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry
  • Author: Runhart, Esmee H ; Dhooge, Patty ; Meester-Smoor, Magda ; Pas, Jeroen ; Pott, Jan Willem R ; van Leeuwen, Redmer ; Kroes, Hester Y ; Bergen, Arthur A ; de Jong-Hesse, Yvonne ; Thiadens, Alberta A ; van Schooneveld, Mary J ; van Genderen, Maria ; Boon, Camiel ; Klaver, Caroline ; van den Born, L. Ingeborg ; Cremers, Frans P.M ; Hoyng, Carel B
  • Subjects: ABCA4 ; incidence ; Ophthalmology ; prevalence ; Stargardt Disease ; STGD1
  • Description: 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.
  • Creation Date: 2022-06
  • Language: English
  • Identifier: ISSN: 1755-375X
    EISSN: 1755-3768
  • Source: Utrecht University Repository
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