Figure 3. Ptosis and severe neurologic feature of Arima syndrome caused by homozygous mutations in CEP290 c.6012–12T>A (P7). A: Severe ptosis was observed immediately after birth. B: Frontalis sling with silicone rod was used as treatment. C: Brain magnetic resonance imaging (MRI) revealed elongation of the superior cerebellar peduncle and cerebellar vermis hypoplasia.