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Reevaluating the association of sex with ABCA4 alleles in patients with Stargardt disease

JAMA Ophthalmology Apr 05, 2021

Lee W, Zernant J, Nagasaki T, et al. - In this cross-sectional study, experts aspired to explore whether the recently reported link between sex and mild ABCA4 alleles among patients with autosomal recessive Stargardt disease (STGD1) is reproducible. In total, 644 patients, mean (SD) age 38.6 (17.2) years and 352 (54.7%) female, with STGD1 with at least 2 pathogenic variants were involved in the study. Data reported that the proportion of women carrying the c.5603A>T p.(Asn1868Ile) allele was 7% higher than in the subgroup not carrying any mild alleles. This independent analysis of a larger cohort of individuals with Stargardt disease found no evidence of a link between sex and certain mild ABCA4 alleles. While sex is undeniably an important factor in medicine, its potential link to clinical outcomes should be thoroughly investigated.

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