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

JAMA Ophthalmology Jun 19, 2021

Lee W, Zernant J, Nagasaki T, et al. - In this cross-sectional study, researchers sought to assess whether the recently reported relationship between gender and mild ABCA4 alleles among patients with autosomal recessive Stargardt disease (STGD1) is reproducible. In total, 644 patients with STGD1 with at least 2 pathogenic variants were involved in the research. This independent analysis of a larger cohort of people with Stargardt disease found no evidence of a link between gender and certain mild ABCA4 alleles. While gender is undeniably an important factor in medicine, its potential link to clinical outcomes should be thoroughly investigated.

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