Ocular manifestations in Duane radial ray syndrome

Abstract

Purpose To present two related cases with Duane Radial Ray syndrome, ophthalmologic affectation with Duane syndrome and retinal nerve fiber layer (RNFL) hypoplasia. Methods The first patient (15‐years woman) showed Duane syndrome, reduction of visual acuity and pale optic discs. The other patient (12 years woman) presented Duane malformation. Both patients underwent a complete ophthalmologic evaluation with best corrected visual acuity, visual field examination, optical coherence tomography (OCT), scanning laser polarimetry, visual evoked potentials, pattern electroretinogram, and a genetic study. Results OCT and scanning laser polarimetry showed diffuse decrease of RNFL thickness, mainly left eye, retaining the typical morphology as double hump, in patient 1. Neurophysiology evaluation showed decrease in amplitudes of visual evoked potentials and pattern electroretinogram, and increased latency of P100 component. Neuro‐ophthalmologic exploration in patient 2 showed subclinical reduction of RNFL average thickness provided by OCT and increase of P50 and N95 latency by pattern electroretinogram. RNFL average thickness presents reduced scores in both patients, but without glaucomatous morphology. Conclusion Duane radial ray syndrome, also named Okihiro syndrome, may affect retinal nerve fiber layer development and visual acuity.