Pathogenic variants of RPGR cause a range of phenotypes, including rod-cone dystrophy (RCD, also known as RPGR-associated RP), early-onset severe retinal dystrophy (EOSRD), cone-rod dystrophy CORD, cone dystrophy (COD), macular atrophy, and syndromic XLRP. Here, RPGR is linked to severe early-childhood-onset retinal dystrophy.