GUCA1A and Abnormal retinal morphology: This variant has been previously reported in association with X chromosome–linked retinal disease.6 Interrogation of the gnomAD data set revealed an allele frequency for the p.(Pro50Leu) variant in GUCA1A of 0.12% (337 of 282 870 alleles), reaching a frequency in Northwest European alleles of 0.22% (114 of 50 812 alleles).