Stéphanie S Cornelis, Joanna IntHout, Esmee H Runhart, Olivier Grunewald, Siying Lin, Zelia Corradi, Mubeen Khan, Rebekkah J Hitti-Malin, Laura Whelan, G Jane Farrar, Dror Sharon, L Ingeborgh van den Born, Gavin Arno, Mark Simcoe, Michel Michaelides, Andrew R Webster, Susanne Roosing, Omar A Mahroo, Claire-Marie Dhaenens, Frans P M Cremers
IMPORTANCE: Previous studies indicated that female sex might be a modifier in Stargardt disease, which is an ABCA4-associated retinopathy. OBJECTIVE: To investigate whether women are overrepresented among individuals with ABCA4-associated retinopathy who are carrying at least 1 mild allele or carrying nonmild alleles. DATA SOURCES: Literature data, data from 2 European centers, and a new study. Data from a Radboudumc database and from the Rotterdam Eye Hospital were used for exploratory hypothesis testing...
April 11, 2024: JAMA Ophthalmology