Further supporting pathogenicity, the 4-year-old individual with the mutation exhibited typical features of TULP1-associated disease [24], including severe visual impairment in infancy with nystagmus, photoaversion, night blindness, vision limited to HM and CF, high myopia, and widespread pigmentary retinopathy (Table 2). This evidence concerns the gene TULP1 and Pigmentary retinopathy.