Ocular manifestations (strabismus: duane syndrome; and retinal nerve fiber hypoplasia) in okihiro syndrome (duane radial ray syndrome).

Abstract

BACKGROUND AND PURPOSE:

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: Elena Garcia-Martin, Isabel Pinilla, Carmen Almarcegui, Javier Fernandez, Elizabeth C Engle, Feliciano J Ramos
• Journal: Binocular vision & strabology quarterly, Simms-Romano's (Binocul Vis Strabolog Q Simms Romano) Vol. 27 Issue 4 Pg. 235-42 ( 2012) ISSN: 2160-5904 [Electronic] United States
• PMID: 23234485 (Publication Type: Journal Article)

Topics

• Duane Retraction Syndrome
• Evoked Potentials, Visual
• Humans
• Nerve Fibers
• Retinal Ganglion Cells
• Strabismus