Table 1 summarizes the clinical findings in previous cases of infantile nystagmus with the TUBB3 variants, as well as the case described in this report. Previously reported patients with the M323V syndrome had no CFEOM phenotype, but patients with G71R and G98S syndrome showed both CFEOM and infantile nystagmus [19,24]. The gene discussed is TUBB3; the disease is congenital fibrosis of the extraocular muscles.