The oculomotor problems which seem to appear due to hypoplasia of the cerebellum many times remarked on brain imaging studies.[19] Strabismus represents a sign found in approximately 90% of previous reported OPHN1 mutations and is present in both investigated children.[3,8,9,15,16,18,20–23] Nystagmus has been described by Moortgart et al,Schwartz et al, and Zanni et al,[8,21,24] and it is also present in the proband (III-16). This evidence concerns the gene OPHN1 and pathologic nystagmus.