Sex may not be a disease-modifying variable in Stargardt disease

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More research is needed into the potential link between sex and clinical outcomes in patients with autosomal recessive Stargardt disease (STGD1) after an independent analysis found no association between sex and certain mild ABCA4 alleles in a larger cohort of patients with the disease.

The cross-sectional study found that among 644 patients with STGD1, there was a slightly higher proportion of women in the cohort (54.7%) and in the majority of alleges categories, but the differences were not statistically significant.

The proportion of women carrying the c.5603A>T p.(Asn1868Ile) allele and the c.5882G>A p.(Gly1961Glu) allele was 7% and 2% higher than the group not carrying any mild alleles. There was a 3% difference between the total mild allele subcohort and the no mild allele subcohort.

Patients with mild alleles had significantly delayed disease onset and preserved visual acuity compared with patients with no mild alleles.

Lee W, Zernant J, Nagasaki T, et al. Reevaluating the association of sex with ABCA4 alleles in patients with Stargardt Disease. JAMA Ophthalmol. 2021;139(6):654–657. doi:10.1001/jamaophthalmol.2021.0460

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