Garcia-Martin Elena, Pinilla Isabel, Almarcegui Carmen, Fernandez Javier, Engle Elizabeth C, Ramos Feliciano J
Binocul Vis Strabolog Q Simms Romano. 2012;27(4):235-42.
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.
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.
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.
Our analyses suggest that Okihiro Syndrome may affect retinal nerve fiber layer development and visual acuity.
本文报告了两名被诊断为奥基希罗综合征（又称杜安-桡骨发育不全综合征）的兄弟姐妹，他们伴有包括杜安综合征和视网膜神经纤维层（RNFL）发育不全在内的眼部表现。
首例患者（15岁女性）被诊断为杜安综合征，伴有视力下降和视盘苍白。她的RNFL厚度普遍降低，主要在左眼，光学相干断层扫描（OCT）和扫描激光偏振仪显示其保留了典型的双峰状RNFL形态。神经生理学评估发现视觉诱发电位和图形视网膜电图振幅降低，P100成分潜伏期延长。第二例患者（12岁女性）表现为杜安畸形。两名患者均接受了全面的眼科评估，包括最佳矫正视力、视野检查、光学相干断层扫描（OCT）、扫描激光偏振仪、视觉诱发电位、图形视网膜电图和基因研究。
神经眼科评估显示，OCT提供的RNFL平均厚度有亚临床降低，图形视网膜电图显示P50和N95潜伏期延长。两名患者的RNFL平均厚度评分均降低，无典型青光眼形态。
我们的分析表明，奥基希罗综合征可能影响视网膜神经纤维层发育和视力。
