Association of sex with frequent and mild ABCA4 alleles in Stargardt disease
EH Runhart, M Khan, SS Cornelis, S Roosing… - JAMA …, 2020 - jamanetwork.com
Importance The mechanisms behind the phenotypic variability and reduced penetrance in
autosomal recessive Stargardt disease (STGD1), often a blinding disease, are poorly
understood. Identification of the unknown disease modifiers can improve patient and family
counseling and provide valuable information for disease management. Objective To assess
the association of incompletely penetrantABCA4alleles with sex in STGD1. Design, Setting,
and Participants Genetic data for this cross-sectional study were obtained from 2 multicenter …
autosomal recessive Stargardt disease (STGD1), often a blinding disease, are poorly
understood. Identification of the unknown disease modifiers can improve patient and family
counseling and provide valuable information for disease management. Objective To assess
the association of incompletely penetrantABCA4alleles with sex in STGD1. Design, Setting,
and Participants Genetic data for this cross-sectional study were obtained from 2 multicenter …
