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

Esmee H Runhart Patty 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 Cremers Carel B Hoyng

Published 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.

Keyphrases

late onset
early onset
risk factors
working memory
big data
cross sectional
machine learning
artificial intelligence