LAUSR

Key Points Question Is there evidence that the Pro50Leu substitution in guanylate cyclase activating protein-1 (encoded by the gene GUCA1A) is associated with a dominant retinal dystrophy? Findings In this cross-sectional study reevaluating the original published study of a family after examination of another family member and further genetic testing, a pathogenic variant in the X chromosome–linked RPGR gene was found. Also, publicly available genomic data show that the variant in GUCA1A is too common to cause a dominant retinal dystrophy. Meaning The p.(Pro50Leu) variant in GUCA1A should not be considered a pathogenic variant.