Figure 2. Facial features of the anophthalmic patients. A: Family A: Patient IV:1 at 16 years of age. Note the complete absence of eyes and the large eyebrows with low insertion on the superior eyelid. The patient presented normal psychomotor development. She had a high arched palate and was normal in height, weight, and head circumference. B: Family B: the affected daughter at 7 months of age. As in family A, note the large eyebrows with low insertion on the superior eyelid. Global delay in development, obesity (weight: 7 SD above mean for age and sex, height: 90th percentile), abnormal head circumference (7th percentile), and a high arched palate were observed in this patient. On the genetic level, both patients carried an IVS2 + 3A>G homozygous RAX mutation.