Characteristic fundus features of RP, such as peripheral intraretinal pigment migration and a hyperautofluorescent ring on the macula, and significant history such as nyctalopia, X-linked mode of inheritance, and severe disease at a relatively young age formed the basis for requesting targeted sequencing of the RPGR gene following the negative WES analysis. The gene discussed is RPGR; the disease is retinitis pigmentosa 1.