Only one published study described five patients with CBL variants who had various retinal performances, including two with peripheral pigmentary changes mimicking retinitis pigmentosa, two with optic dystrophy, and one with retinal detachment due to recurrent uveitis, four of whom had chronic hepatosplenomegaly for a long time and one who had idiopathic thrombocytopenic purpura since childhood before visual loss (12). The gene discussed is CBL; the disease is autoimmune thrombocytopenic purpura.