title: Ocular manifestations (strabismus: duane syndrome; and retinal nerve fiber hypoplasia) in okihiro syndrome (duane radial ray syndrome).
abstract: OBJECTIVE
  Two 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.
  
  
  METHODS
  The 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, visual field examination, optical coherence tomography (OCT), scanning laser polarimetry, visual evoked potentials, pattern electroretinogram, and genetic study.
  
  
  RESULTS
  The neuro-ophthalmic evaluation showed a subclinical reduction of RNFL average thickness provided by OCT and an increase of P50 and N95 latency by pattern electroretinogram. RNFL average thickness presented a score reduction in both patients, without typical glaucomatous morphology.
  
  
  CONCLUSIONS
  Our analyses suggest that Okihiro Syndrome may affect retinal nerve fiber layer development and visual acuity.
authors.forename: Elena
authors.initials: E
authors.lastname: Garcia-Martin
authors.forename: Isabel
authors.initials: I
authors.lastname: Pinilla
authors.forename: Carmen
authors.initials: C
authors.lastname: Almarcegui
authors.forename: Javier
authors.initials: J
authors.lastname: Fernandez
authors.forename: Elizabeth C
authors.initials: EC
authors.lastname: Engle
authors.forename: Feliciano J
authors.initials: FJ
authors.lastname: Ramos
mesh_terms: D004370:Duane Retraction Syndrome; D005074:Evoked Potentials, Visual; D006801:Humans; D009412:Nerve Fibers; D012165:Retinal Ganglion Cells; D013285:Strabismus