Pathogenic variants in NR2E3, located on chromosome 15q22.32, are associated with autosomal recessive enhanced S-cone syndrome (ESCS); Goldman–Favre syndrome; clumped pigmentary retinal degeneration; recessive retinitis pigmentosa; and also, dominant retinitis pigmentosa.3 According to HGMD, more than 75 variants have already been described. The gene discussed is NR2E3; the disease is Posterior column ataxia - retinitis pigmentosa.