Patients from three families with a phenotype of EoHM and retinal dystrophy had variants in KCNV2 (OFT-00092), MERTK (OFT-00474) and ARL6 (OFT-00407), genes with a phenotype of retinal cone dystrophy in the case of KCNV2 and retinitis pigmentosa in the other two cases. The gene discussed is KCNV2; the disease is Retinal dystrophy.