Mahroo OA, Arno G, Ba-Abbad R, et al. - Given the wider use of genetic and genomic screening has increased the relevance of correctly differentiating pathogenic from nonpathogenic variants, and in view of this, researchers re-assessed an earlier reported family in whom the p.(Pro50Leu) variant in the gene GUCA1A was related to a dominant retinal dystrophy, considering novel examination findings in the proband’s daughter. A genetic analysis associating with a family with inherited retinal dystrophy was conducted at the retinal genetics service of Moorfields Eye Hospital, after fundus examination of the proband’s daughter. According to the findings, the phenotype in the family is now related to the variant in RPGR. Not considering p.(Pro50Leu) variant in GUCA1A as pathogenic was recommended. Based on the observations, the importance of examining relatives, of re-assessing diagnoses in light of novel data, and of regarding X chromosome–linked inheritance in apparently autosomal dominant pedigrees unless there is an obvious male-to-male transmission, was highlighted.