10May 2022
Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry

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

To assess the incidence of Stargardt disease (STGD1) and to evaluate the demographics of incident cases. A total of 800 patients were registered, 56% were female, and 83% were of European ancestry. The observed prevalence of STGD1 in real‐world data was lower than expected based on 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.

  • #ophthalmology

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