误诊为视神经疾病的急性区域性隐匿性外层视网膜病变患者的临床分析

Clinical analysis of acute zonal occult outer retinopathy masquerading as optic neuropathy

目的分析急性区域性隐匿性外层视网膜病变（AZOOR）的临床特征及误诊为视神经疾病或颅内病变的原因。方法系列病例研究。收集2003年11月至2012年6月就诊于北京同仁医院眼科门诊，被误诊为视神经疾病或颅内病变，但经过眼部常规检查、荧光素眼底血管造影（FFA）、相干光断层扫描（OCT）、计算机自动视野、闪光视网膜电图（F—ERG）、多焦视网膜电图（mfERG）、全身风湿免疫学检查及神经影像学检查后最终确诊为AZOOR的20例（23只眼）患者的临床资料。结果20例（23只眼）AZOOR患者中，男性3例（15．0％），女性17例（85．0％）；年龄15～55岁，平均32．9岁。17例患者为单眼发病（85．0％），3例为双眼发病（15．0％），16只眼患有近视（69．6％）。10只眼表现有相对性传人性瞳孑L障碍（58．8％），检眼镜下均未见眼前节及后节活动性炎性改变；眼底检查，除高度近视眼底改变外，4只眼视乳头周围有血管样条纹，3只眼表现为视网膜局部有色素性或萎缩性改变。FFA检查仅发现1只眼血管弓出现轻度荧光素渗漏和周边血管壁染；视野检查缺损类型多样，以颞侧视野缺损和生理盲点扩大多见；14只眼行F—ERG检查，其中12只眼有明显异常；所有患眼进行mfERG检查，均出现与视野缺损相应视网膜区域反应振幅密度的降低；对其中17只眼进行OCT检查，显示出视野缺损相应区域光感受器细胞的内外节层异常。曾怀疑颅内病变者，影像学检查未见视觉相关颅内病变；全身风湿免疫学检查，除1例患者类风湿因子增高外，其他患者均未见异常。结论本组AZOOR患者较少表现有眼部或全身活动性炎症，眼底检查多无特异性改变，年轻女性单眼发病多见，临床常易误诊为视神经疾病，视网膜功能与形态学特征性改变是AZOOR诊断与鉴别诊断的重要依据。

Objective To analyze the clinical features of acute zonal occult outer retinopathy （AZOOR） and the reasons for misdiagnosing as optic neuropathy or intracranial lesions. Methods Case series study. Twenty patients （23 eyes） who were all initially diagnosed as optic neuropathy or intracranial lesions were recruited in the ophthalmologic department of Beijing Tongren Hospital from November 2003 to June 2012, but they were ultimately diagnosed as AZOOR after the examinations including regular eye examination, fundus fluorescein angiography （FFA）, optical coherence tomography （OCT）, automatic perimetry, flash electroretinogram （ F-ERG）, multifocal electroretinogram （mfERG） , systemic rheumatism immunological examination and neuroimaging. Results These 20 patients with an average age of 32. 9 years （range 15 to 55 years） consisted of 17 females （85%） and 3 males （ 15.0% ）. Among them, 17 patients （ 85.0% ） were affected unilaterally, while 3 patients （ 15.0% ） were affected bilaterally. Sixteen of 23 eyes （69.6%） had myopia. Ten eyes （58.8%） showed relative afferent papillary defect. Inflammatory response was not found by slit lamp and fundus examination. Besides the other abnormal fundus changes of high myopia, fundus angioid streaks were found in 4 eyes and retinal pigment epithelium dystrophy was found in 3 eyes by fundus examination. FFA revealed that there was mild fluorescein leakage around the retinal vascular arch in one eye. The patterns of visual field detect in these patients were various, while temporal scotoma and blind spot enlargement were most common. Twelve of 14 patients who had been performed F- ERG showed abnormal F-ERG. mfERG of all patients showed the decreased amplitude densities of the retina in accordance with the areas of visual field defect. IS/OS layer of 17 patients who went through OCT examination were found abnormal in the corresponding areas of visual field defect. Neuroimaging examination revealed there was nothing abnormal in the patients who were diagnosed as intracranial lesions. Immunological parameters in these patients were almost normal except for one patient with an increased level of rheumatoid factor. Conclusions AZOOR patients in this study rarely has ocular or systemic inflammatory. AZOOR occurs predominantly in the unilateral eye of young female patients, and are easily misdiagnosed as optic neuropathy due to the almost normal appearances of fundus. The examinations of retinal functional and morphological changes are the key to its diagnosis and differential diagnosis.