Beyond the TUBB3-CFEOM variants in H11 and H12 are (1) R62, which is located in a loop mediating lateral interactions but has only been reported one in one individual with isolated CFEOM and his unaffected mother, and (2) S78 which clusters with G71 and G98 near the E site of the GTP binding and has also been reported only once in a parent and child with CFEOM. The gene discussed is TUBB3; the disease is congenital fibrosis of the extraocular muscles.