Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry.
Esmee H RunhartPatty P A DhoogeMagda Meester-SmoorJeroen PasJan Willem R PottRedmer van LeeuwenHester Y KroesArthur A BergenYvonne de Jong-HesseAlberta A ThiadensMary J van SchooneveldMaria van GenderenCamiel BoonCaroline KlaverL Ingeborg van den BornFrans P M CremersCarel B HoyngPublished in: Acta ophthalmologica (2021)
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.