We report 3 children referred to the paediatric retinal surgery service in Oxford in whom a unifying genetic diagnosis for retinal dystrophy was made possible by deep ocular phenotyping under anaesthetic. Novel aspects of the phenotype included the presence of retinoschisis with an outer leaf break, chorioretinal lesions and beaded anterior vitreous opacities. New mutations for Knobloch's syndrome are reported. The natural history through to adulthood is presented in one case.