Similar ocular findings have been reported in a patient with features of MSS/CED with IFT140 variants described by Geoffroy et al., while the patient described by Bayat et al. was diagnosed with retinal dystrophy showing that ocular defects are probably a frequent feature in CED patients with IFT140 mutations [8, 12]. This evidence concerns the gene IFT140 and Marinesco-Sjogren syndrome.