Ocular manifestations in Okihiro Syndrome

Background and purposeTwo siblings diagnosed with Okihiro syndrome (also named Duane Radial Ray Syndrome) associated with ophthalmic manifestation including Duane syndrome and retinal nerve fiber layer (RNFL) hypoplasia were presented.MethodsThe first patient (15-years old female) was diagnosed of Duane syndrome presenting reduction of visual acuity and pale optic discs. She showed a diffuse decrease in the RNFL thickness, mainly in her left eye, retaining the typical RNFL morphology as double hump, demonstrated by OCT and scanning laser polarimetry. Neurophysiology evaluation found a decrease in visual evoked potentials and pattern electroretinogram amplitudes, and an increase of the latency of P100 component. The second patient (12 year-old female) presented with Duane malformation. Both patients underwent a complete ophthalmic evaluation with best corrected visual acuity …