TULP1 and cone-rod dystrophy: However, using a homozygosity mapping approach in a cohort of 159 CCRD, Roosing et al. [52] recently reported the cases of 2 unrelated patients with predominantly cone-mediated phenotype (1 with CD and 1 with CRD) carrying a novel homozygous missense mutation (p.R420S) in TULP1, predicted as pathogenic.