Out of the remaining 60 patients, 7 patients (12%) revealed one potentially disease-causing variant in a gene causing recessive retinopathy in combination with a phenotype usually associated with mutations in the respective gene (ABCA4, n = 5; CDH3, n = 1; CERKL, n = 1; Supplementary Table 4). The gene discussed is ABCA4; the disease is retinal disorder.