A 37-year-old man with a history of progressive bilateral sensorineural hearing loss presented to a neuro-ophthalmology clinic with an acute left homonymous hemianopsia. In this article, we discuss the clinical approach and differential diagnosis of progressive combined vision and hearing loss and guide the reader to discover the patient’s ultimate diagnosis.
一名37岁男性，因进行性双侧感音神经性听力丧失合并急性左侧同向性偏盲就诊于神经眼科诊所。本文讨论了进行性视力和听力双重受损的临床诊断方法和鉴别诊断，引导读者发现患者的终极诊断。
Report of a Case 病例报告
A 37-year-old man with a history of progressive hearing loss presented to the neuro- ophthalmology clinic in 2014 with 1 month of decreased vision in his left visual field. He also reported a period of binocular horizontal diplopia, similar in all directions of gaze, that had since resolved. Medical history revealed bilateral synchronously progressive hearing loss since 2003, resulting in complete hearing loss by 2009. Intra tympanic steroids provided no benefit, and he was subsequently treated with bilateral cochlear implantation. He took no medications and had no allergies. He had a normal neurodevelopmental history. There was no family history of stroke or hypercoagulable disease, but several maternal aunts had early hearing loss requiring the use of hearing aids. He was single and employed as an engineer. He denied any alcohol, tobacco, or drug use; any dizziness or unsteadiness; and any fluctuations in his hearing during his period of progressive hearing loss. He also did not reside in a tick-endemic region of the country.
37岁男性，既往进行性听力下降，因左侧视野缺损1个月就诊于神经眼科门诊。患者自诉双眼阶段性水平复视，在凝视的所有方向上性质相似，此后消失。既往史：2003年开始，出现双侧同步进行性听力下降，到2009年听力完全丧失，鼓室内注射类固醇无效，进行了双侧耳蜗移植。没有用药史和过敏史。神经系统发育正常。没有卒中或高凝性疾病的家族史，但是有几位姨妈早年出现听力丧失，需使用助听器。患者未婚，是一名工程师。否认酒精、烟草及药物滥用，否认头晕、行走不稳，进行性听力下降期间听力无波动，也没有在国内的蜱流行区居住过。
On neurological examination, visual acuity was 20/25 in both eyes with correction. He correctly identified 11 of 11 Ishihara color plates in both eyes. Pupils were 5mm and bilaterally reactive with no relative afferent pupillary defect. Motility was full, and alignment showed a 10–prism diopter esophoria in all cardinal directions of gaze. Confrontation and Humphrey visual fields showed a left homonymous hemianopsia. Anterior slitlamp examination was normal. Dilated fundus examination revealed normal optic discs with a cup-disc ratio of 0.2 bilaterally. Both maculae were flat, and the peripheral retinas were normal. His strength and sensation were normal in all 4 extremities.
神经系统检查：双眼校正视敏度20/25，双眼色觉正常（双眼正确识别石原色盲测试彩色板：11/11）。瞳孔直径5mm，双侧无相对性瞳孔传入障碍，眼球各方向运动充分，各注视方向上存在10-棱镜度的内斜。Humphrey视野计检查显示双眼左侧同向性偏盲。裂隙灯检查前房正常。散瞳眼底检查示视盘正常，双侧杯盘比0.2。双侧黄斑平坦，周边视网膜正常。四肢肌力和感觉正常。
Laboratory and Radiologic Data
实验室及影像学检查
A computed tomographic scan of the head performed at presentation showed a right medial occipital hypodensity and bilateral basal ganglia calcifications (Figure).
入院时的头部CT平扫显示右枕叶内侧低密度影，双侧基底节钙化（图）。
Laboratory testing identified no traditional factors for ischemic stroke. Complete blood cell count and electrolyte results were normal. Hemoglobin A1c was 5.3% (to convert to proportion of total hemoglobin, multiply by 0.01). Low-density lipoprotein cholesterol level was 128mg/dL (to convert to micromoles per liter, multiply by 0.0259). Erythrocyte sedimentation rate was 6 mm/h (to convert to millimeters per hour, multiply by 1), and C-reactive protein level was 0.4mg/L (to convert to nanomoles per liter, multiply by9.524).Test results for rapid plasma regain and fluorescent treponemal antigen antibodies were negative. Test results for antinuclear antibodies and rheumatoid factor were negative. Results for hypercoagulability testing with activated protein C resistance, anticardiolipin antibodies, and β2 glycoprotein antibodies showed no abnormalities. Leukocyte α-galactosidase activity was normal.
实验室检查没有发现常见的卒中危险因素。全血细胞计数及电解质正常，血红蛋白A1c百分比5.3%（乘以0.01换算成总血红蛋白的比例）；低密度脂蛋白128mg/dl（乘以0.0259换算成微摩尔/升），红细胞沉降率6mm/h（乘以1换算成毫米/小时），C反应蛋白0.4mg/L（乘以9.524换算成纳摩尔/升）；快速血浆反应素及荧光梅毒螺旋体抗原抗体试验阴性；抗核抗体、类风湿因子阴性；高凝状态相关检查，如活化蛋白C抵抗试验、抗心磷脂抗体、β2糖蛋白抗体均无异常；白细胞α-半乳糖苷酶活性正常。
Transesophageal echocardiogram results showed normal cardiac function without masses or thrombi. Computed tomographic angiography of the head and neck revealed no areas of stenosis. A second head computed tomography was subsequently performed 2 months after his initial presentation when he reported apraxia and left arm weakness, which showed resolution of the medial occipital lesion with a new hypodensity in the right posterior frontal lobe (e Figures 1-9 in the Supplement).
经食道心脏超声示心脏功能正常，没有异常团块或血栓；头颈联合CTA未见血管狭窄；在最初表现为失用和左侧上肢无力2个月以后，进行第二次头CT检查，结果显示枕叶内侧病灶消失，代之以右额叶后部新发低密度。
Clinical Discussion (Dr Kung)
临床讨论
This patient presented with a new left homonymous hemianopsia in the setting of profound progressive sensorineural hearing loss and a maternal family history of early hearing loss.
在重度进行性感音神经性耳聋及表现为早期听力下降的母系遗传家族史的背景下，患者出现了新发左侧同向性偏盲。
Although this patient’s vision loss localized well to the right occipital lobe, vision loss can localize to the anterior chamber, retina, retinal vasculature, optic nerve, or cerebral cortex. When combined with the presence of sensorineural hearing loss, the diseases that are known to cause combined vision and hearing loss can be subdivided by category of disease and by the localization of the visual disturbance (Table).
虽然患者的视力下降定位于右侧枕叶，但视力下降还可定位于前房、视网膜、视网膜血管、视神经或大脑皮层。当合并出现感音神经性耳聋时，已知的导致视力和听力联合受损的疾病，可根据视觉障碍的疾病类别及受累部位进行详细分类（表）。
Infectious causes of combined vision and hearing loss include syphilis and Lyme disease. While miotic pupils with light-near dissociation (ie, Argyll Robertson pupils) are classically seen in neurosyphilis, there are many potential ocular manifestations including uveitis, chorioretinitis, neuroretinitis, retinal vasculitis, and acute, subacute, or chronic optic neuropathy. Furthermore, syphilis should also be specifically considered in cases of acute or subacute sensorineural hearing loss because it is one of only several potentially reversible causes of sensorineural hearing loss.1
视听功能同时受累时，感染性病因包括梅毒和莱姆病。神经梅毒的典型表现是瞳孔缩小伴光-近分离（阿-罗瞳孔，光反射消失而调节反射存在），还有其他眼部表现包括葡萄膜炎、脉络膜视网膜炎、视神经视网膜炎、视网膜血管炎以及急性/亚急性/慢性视神经病。此外，当遇到急性或亚急性感音神经性耳聋时，也特别要考虑到梅毒的可能性，因为它是少数几种能够引起可逆性感音神经性耳聋的病因之一。
In endemic areas, Lyme disease should be considered because it may produce protean ocular manifestations with sensorineural hearing loss similar to syphilis. In this patient, test results for rapid plasma reagin and fluorescent treponemal antigen antibodies were both negative, and he did not reside in a Lyme-endemic area, making these infectious etiologies unlikely.
莱姆病同梅毒一样，也可以引起变化多端的视觉症状伴感音神经性耳聋，在疫区时，要考虑到它的可能。本例患者快速血浆反应素及荧光梅毒螺旋体抗原抗体试验均为阴性，也没有在莱姆病疫区居住过，这样感染性病因就不太可能。
Once infectious causes have been excluded in cases of combined vision and hearing loss, autoimmune and inflammatory disorders should be considered given the potential for corticosteroids and immunosuppressants to significantly improve or alter the course of these diseases.
视听联合受损的感染性病因排除后，就应该考虑到自身免疫性及炎症性疾病，因为使用激素或免疫抑制剂可能会明显改善症状或改变疾病进程。
Cogan syndrome is an autoimmune disorder characterized by the acute to subacute presentation of visual disturbances owing to interstitial keratitis combined with Meniere-like attacks of hearing loss, tinnitus, and vertigo.2 Nearly all patients eventually develop sensorineural hearing loss, and if left untreated, the hearing loss can be come profound. The ocular manifestations of interstitial keratitis include eye redness, eye pain, sensitivity to light, and blurred vision. Young adults are classically affected, although cases in children and older adults have also been reported. Rarely, a systemic vasculitis may also be present.
Cogan综合征是一种自身免疫性疾病，典型表现为间质性角膜炎引起的急性或亚急性视觉障碍，并伴有梅尼埃样发作症状如听力下降、耳鸣和眩晕。几乎所有的病人最后都会发展为感音神经性耳聋，如果不治疗的话，听力下降得会更明显。间质性角膜炎的视觉表现包括眼部发红、眼痛、光敏感、视觉模糊。青年人易患病，儿童或老年人也有报道。少见情况下，还会出现系统性血管炎。
Susac syndrome is another inflammatory microvasculopathy characterized by the clinical triad of encephalopathy, branch retinal artery occlusions, and vascular hearing loss.3 Brain magnetic resonance imaging classically shows infarctions within the body of the corpus callosum. Because of the ongoing autoimmune microvasculopathy, serial retinal infarctions may lead to cumulative and irreversible vision loss. Vascular hearing loss may also occur abruptly and be associated with poor speech discrimination, vertigo, and tinnitus.
Susac综合征是另一种炎性微血管病，典型的三联征表现是脑病、视网膜分支血管闭塞和血管性听力丧失。头部MRI典型表现是胼胝体的梗死灶。由于持续存在的自身免疫性微血管病，连续性的视网膜梗死引起严重的、不可逆的视力丧失。血管性听力丧失也可能突然发生，伴随语言分辨力差、眩晕及耳鸣。
Vogt-Koyanagi-Harada is a rare disorder in which tissues containing melanocytes are targeted, leading to a constellation of bilateral uveitis with sensorineural hearing loss, tinnitus, and vertigo, which may be associated with vitiligo, alopecia, or poliosis (loss of melanin in head hair, eyebrows, or eyelashes).4Whentreated early, the prognosis for vision is reported to be favorable.
Vogt-Koyanagi-Harada是一种罕见病，含有黑色素细胞的组织受累，引起双侧葡萄膜炎伴感音神经性耳聋、耳鸣和眩晕，还可能合并出现白癜风、秃头或白发症（头发、眉毛或睫毛中的黑色素丢失）。早期治疗，视觉预后尚可。
Giant cell arteritis is also occasionally associated with acute symptomatic hearing loss that can precede the visual symptoms.5 Therefore, if a patient develops acute or subacute hearing loss in association with headaches, jawclaudication, or other systemic symptoms, giant cell arteritis should still be strongly considered. Acute posterior multifocal placoid pigment epitheliopathy should be considered in cases of acute to subacute visual loss with evidence of multiple discrete yellow-white placoid lesions in the retina because this entity is rarely associated with a catastrophic cerebral vasculitis.6
巨细胞动脉炎偶尔也会出现急性症状性听力下降，并先于视觉症状出现。因此，当一个病人出现急性、亚急性听力下降伴头痛、下颌跛行或其他全身症状，要考虑到巨细胞动脉炎。当遇到急性或亚急性视力下降伴明显的视网膜多发性分散存在的黄白色扁平鳞状病变，很可能是急性后部多灶性鳞状色素上皮病，这类疾病几乎不会引起灾难性的脑血管炎。
Other potentially reversible inflammatory and infiltrative causes of combined vision and hearing include eamyloidosis, sarcoidosis, superficial siderosis, pachymeningitis(including IgG4 – related disease), neurolymphomatosis, and other forms of systemic vasculitis.7 However, in these diseases, other symptoms are likely to be more prominent than the presence of isolated visual or audio vestibular dysfunction.
其他可逆性、炎症性和浸润性的潜在病因包括淀粉样变、结节病、表面铁沉积症、硬脑膜炎（包括IgG4相关的疾病）、神经淋巴瘤病、系统性血管炎的其他表现形式。然而，在这些疾病实体中，其他症状常常较孤立的视觉或听力-前庭障碍更突出。
This patient’s hearing loss was gradually progressive over a period of approximately 6 years, making a unifying autoimmune or inflammatory etiology exceedingly unlikely. Furthermore, his vision loss was owing to cerebral cortical involvement rather than involvement of the eye itself, and his hearing loss was gradually progressive without dizziness, unsteadiness, or attacks of vertigo. Therefore, metabolic and hereditary etiologies should be considered.
在大约6年的时间内，本患者听力进行性下降，可以排除自身免疫性或炎症性病因。此外，患者的视觉障碍与皮层有关而不是眼睛本身，并且，患者的听力下降逐渐进展，不伴有头晕、步态不稳或眩晕发作。因此，需要考虑代谢性和遗传性病因。
In the category of metabolic diseases, Refsum disease, a peroxisomal disorder, may present with a combination of early night blindness owing to retinitis pigmentosa, gradually progressive sensorineural hearingloss, and evidence of cerebella rataxia with a superimposed sensory ataxia from demyelinating polyneuropathy.8 Fabry disease, a lysosomal storage disorder, may present in young adults with cortical vision loss owing to ischemic stroke, mild sensorineural hearing loss, painful peripheral neuropathy, renal failure, and congestive heart failure.9
代谢性病因中，Refsum病，一种过氧化物酶病，表现为色素性视网膜炎引起的早期夜视障碍、进行性加重的感音神经性听力下降和小脑性共济失调叠加脱髓鞘多发性神经病引起的感觉性共济失调。Fabry病，一种溶酶体储积障碍病，青年人中常见，表现有缺血性卒中引起的皮层性视觉下降、轻度的感音神经性耳聋、痛性周围神经病、肾功能和充血性心力衰竭。
Several other inherited diseases known to cause combined vision and hearing loss include Usher syndrome, which presents with retinitis pigmentosa and early profound sensorineural hearing loss8; Wolfram syndrome, which presents in early childhood with optic atrophy, high-frequency hearing loss, and diabetes insipidus or mellitus10; and cerebellar ataxia, a reflexia, pes cavus, optic atrophy, and sensorineural hearing loss syndrome. In this male patient, while there are findings suggestive of a cerebral infarct, such as in Fabry disease, his normal α-galactosidase activity precludes this diagnosis.
遗传性病因包括表现为色素性视网膜炎和早期显著感音神经性耳聋的Usher综合征；表现为儿童早期出现视神经萎缩、高频听力下降和尿崩症或糖尿病的Wolfram综合征；表现为小脑性共济失调、反射消失、高弓足、视神经萎缩和感音神经性耳聋的综合征。在这个男性病人，有皮层梗死的证据，好似Fabry病,但是其α-半乳糖苷酶活性正常，排除了这一诊断。
Finally, there are also a number of named mitochondrial disorders to consider in patients with combined vision and hearing loss. Mitochondrial encephalomyopathy, lacticacidosis, and stroke like episodes (MELAS) is a mitochondrial disorder that classically presents in young adults with recurrent or sequential stroke like symptoms.11 However, the affected cortical areas tend not to conform to a typical vascular distribution, and the symptoms and imaging may improve more than expected for ischemic stroke. The posterior cerebral lobes are classically involved, often leading to homonymous cortical visual field defects. Bilateral basal ganglia calcifications may be present, a finding that can be seen in mitochondrial disease and a number of other inherited, infectious, toxic, or metabolic conditions such as cytomegalovirus or rubella infection, AIDS, carbon monoxide poisoning, Fahr syndrome (familial idiopathic basalganglia calcification), and hyperparathyroidism or hypoparathyroidism. Lactate levels are classically elevated in MELAS, although other manifestations are variable, including hearing impairment, migraines, muscle weakness, cardiomyopathy, peripheral neuropathy, learning disabilities, dementia, and/or epilepsy. The disease is maternally inherited, and a careful family history often reveals affected maternal female relatives. Neuropathy, ataxia, and retinitis pigmentosa is another mitochondrially inherited disease with its named features as cardinal symptoms, particularly with regard to its severe sensorimotor polyneuropathy and progressive visual impairment from retinitis pigmentosa. Hearing loss is variable.11Dominant optic neuropathy may also be occasionally associated with hearing loss, known as dominant optic neuropathy–plus.12
最后，有几种线粒体疾病需要考虑到。线粒体脑肌病、乳酸性酸中毒和卒中样发作（MELAS），是一种线粒体疾病，典型表现为青年人反复或持续性卒中样发作症状。然而，皮层病灶与脑血管分布不一致，并且症状和影像学改善的程度较缺血性卒中更好。典型者后部脑叶受累，常引起同向性皮层视野缺损。双侧基底节钙化可以在线粒体疾病和其他遗传性、感染性、中毒性或代谢性疾病中出现，如巨细胞病毒、风疹感染、艾滋病、一氧化碳中毒、Fahr综合征（家族特发性基底节钙化）和甲状旁腺功能亢进或甲状旁腺功能减低症。MELAS的经典表现是乳酸增高，虽然其他症状千变万化，包括听力损害、偏头痛、肌无力、心肌病、周围神经病、学习障碍、痴呆和/或癫痫。这是一种母系遗传性疾病，对家族史的仔细搜寻可以发现受累的母系女亲属。神经病、共济失调、色素性视网膜炎是另一种线粒体遗传性疾病，以其主要症状特征命名，特别是存在严重的感觉运动性多发性神经病和色素性视网膜炎引起的进行性视觉损害。听力损害的程度可不同。显性遗传性视神经病偶尔也可合并存在听力下降，称为显性遗传性视神经病叠加综合征。
This patient’s history of 2 stroke like episodes, sensorineural hearing loss, and family history of several maternal relatives with early hearing loss strongly suggest MELAS. Further diagnostic testing, including lactate/pyruvate levels, muscle biopsy, and/or genetic testing, should be performed.
该患者2次卒中样发作、感音神经性耳聋结合母系亲属早发耳聋的家族史，强烈支持MELAS的诊断。需进一步完善诊断性的检查，包括乳酸/丙酮酸水平、肌活检和/或基因检测。
Clinical Course 临床过程
Following the patient’s initial presentation, plasma lactate was found to be elevated at 23.42mg/dL (normal levels, 5.0-15mg/dL [to convert to millimoles per liter, multiply by 0.111]), and pyruvate was elevated at 0.10mmol/ L (normal levels, 0.03-0.08mmol/L) with a normal lactate-pyruvate ratio of 26 (normal levels, 10-30). Blood was then sent for leukocyte testing to evaluate for several of the most common mutations in MELAS, results of which returned negative. However, owing to the high suspicion for mitochondrial disease, a left gastrocnemius muscle biopsy was performed.
本患者首次就诊时，血乳酸水平升高为23.42 mg/dL(正常范围5-15 mg/dL),丙酮酸升高为0.10 mmol/L(正常范围0.03-0.08 mmol/L)，乳酸/丙酮酸比值正常26（正常范围10-30）。然后，血液送检评估MELAS最常见的几种突变，结果显示阴性。然而，由于高度怀疑线粒体疾病，进行了左侧腓肠肌的肌活检。
Pathology 病理
Histologic analysis of the patient’s muscle fibers showed no ragged red fibers on the Gomori trichrome stain. Cytochrome c oxidase was qualitatively decreased, although there was a relative abundance of type 2b muscle fibers. In addition, there were no fibers or blood vessels with increased staining on succinate dehydrogenase (e Figures1-9 in the Supplement). The muscle was subsequently sent for comprehensive mitochondrial genomic analysis by next- generation sequencing, which revealed a pathogenic 97.7% heteroplasmic 1644 glycine to alanine point mutation in the mitochondrially encoded transfer ribonucleic acid for valine, confirming the diagnosis of MELAS.
患者肌纤维的组织学分析，Gomori染色没有破碎红纤维。虽然富含IIb型肌纤维，但是细胞色素c氧化酶含量下降。另外，纤维或血管对琥珀酸脱氢酶染色没有加深。然后，通过二代测序的方法对肌纤维进行综合性的线粒体基因组分析，结果显示97.7%异质性致病改变，线粒体编码转移缬氨酸的核糖核酸1644基因位点的甘氨酸突变成丙氨酸，证实了MELAS的诊断。
Conclusions 结论
Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes is classically a maternally inherited mitochondrial disorder characterized by strokelike episodes before age 40 years, encephalopathy owing to seizures or dementia, and myopathy characterized by lactic acidosis and/or ragged red fibers. Most cases are caused by a pathogenic 3243 alanine to glycine mutation in mitochondrially encoded tRNA-leucine, although at least 14 other mitochondrial point mutations and at least 1 nuclear gene mutation can also produce a MELAS phenotype.
线粒体脑肌病、乳酸性酸中毒和卒中样发作是母系遗传的线粒体疾病的典型表现，特征是40岁前出现卒中样发作、癫痫或痴呆引起的脑病、以乳酸酸中毒和/或破碎红纤维为代表的肌病。虽然至少有14种其他的线粒体基因突变位点和一个核基因突变位点也可以引起MELAS亚型，但是，多数病例是由于线粒体编码tRNA-亮氨酸的基因位点3243的丙氨酸突变为甘氨酸导致的。
The pathophysiology of MELAS is incompletely understood but relates broadly to insufficient energy production through the oxidative phosphorylation pathway. The cerebral vasculature also appears to be selectively susceptible to energy failure in MELAS, leading to the strokelike episodes seen in this syndrome. L-arginine, a nitric oxide precursor, has been explored as a treatment for these episodes.
MELAS的病理生理机制目前并没完全阐释清楚，但是与氧化磷酸化过程中能量产生不足明显相关。在MELAS中，脑血管系统选择性的更易受到能量不足的损害，导致此综合征中卒中样发作。精氨酸（一氧化氮的前体物质）可以作为一种治疗手段。
When mitochondrial diseases are suspected, the evaluation typically begins with biochemical testing including lactate and pyruvate levels, muscle biopsy for histologic examination, mitochondrial enzymatic analysis, and mitochondrial genomic analysis. However, normal histologic and mitochondrial enzymatic findings in muscle do not preclude a diagnosis of mitochondrial disease, as demonstrated in this case.
当怀疑线粒体疾病时，评估通常从生化检验开始，包括乳酸和丙酮酸水平，肌活检进行组织学检查，线粒体酶学分析以及线粒体基因组分析。然而，类似于这个病例所体现的，正常的组织学和线粒体酶学分析并不能排除线粒体疾病的诊断。
Each human cell contains thousands of individual copies of mitochondrial DNA, and normal wild-type mitochondrial DNA often coexist with pathogenically mutated mitochondrial DNA, a state known as heteroplasmy. When each cell subsequently divides, there is then random segregation of mitochondria and mitochondrial DNA into the daughter cells, which ultimately leads to a nonuniform distribution of affected mitochondria into various tissues (eg, into leukocytes, liver, or muscle). Therefore, genomic testing should be performed on affected tissue, especially those which are enriched in mitochondria (eg, appendicular muscle).
每个人细胞包含成千上万份线粒体DNA，正常的野生型线粒体DNA经常与致病性突变的线粒体DNA并存，这种状态称为异质性。当每个细胞进行分裂时，线粒体及线粒体DNA随机分配至子代细胞，最终导致突变线粒体在不同的组织（例如：进入白细胞、肝脏、肌肉）分布不一致。因此，基因组检测应该针对受累的组织，特别是那些富含线粒体的组织（如肢带肌）。
Once the exact genetic mutation is identified, this information will help to identify and anticipate the known complications of the patient’s syndrome and will likely continue to guide the patient’s care well into the future.
一旦证实了确切的基因突变，这些信息有助于识别和预测患者可能出现的并发症，并将可能继续指导病人良好的护理，直至未来。
图 眼底镜、Humphrey视野计检查、头部CT
左（B）右（A）眼底镜检查显示：正常视盘，没有视神经萎缩、色素性视网膜病或黄斑病变。左（C）右(D)Humprey视野检查显示双侧同向性左侧视野偏盲。 E，头部CT平扫显示右枕叶内侧症状性低密度信号。F，头部CT平扫显示双侧基底节钙化灶，在一些遗传性、感染性、中毒性或代谢性疾病中均可出现。
表 鉴别诊断
疾病类型
可能的诊断
同时出现视力和听力下降的鉴别诊断
感染性
梅毒和莱姆病
自身免疫性/炎症性
Cogan综合征、Susac综合征、Vogt-Koyanagi-Harada综合征、巨细胞动脉炎、急性后部多灶性鳞状色素上皮病
代谢性
Rsfsum病、Fabry病
遗传性
Usher综合征、Wolfram综合征；小脑性共济失调、反射消失、高弓足、视神经萎缩和感音神经性耳聋综合征
线粒体病
线粒体肌病、脑病、乳酸酸中毒以及卒中样发作；神经病、共济失调和色素性视网膜炎综合征；遗传性视神经萎缩叠加综合征
眼部受累的鉴别诊断
前 房
Cogan综合征
视网膜
Refsum综合征、Usher综合征、Vogt-Koyanagi-Harada综合征；神经病、共济失调和色素性视网膜炎综合征；急性后部多灶性鳞状色素上皮病
视网膜血管
Susac综合征、巨细胞动脉炎
视神经
遗传性视神经萎缩叠加综合征、小脑性共济失调、反射消失、高弓足、视神经萎缩和感音神经性耳聋综合征；Wolfram综合征
皮 层
线粒体肌病、脑病、乳酸酸中毒以及卒中样发作；Fabry病
梅毒/莱姆病
所有
其他浸润性/自身免疫性病因
淀粉样变、结节病、表面铁沉积症、硬脑膜炎（包括IgG4相关的疾病）、神经淋巴瘤病、系统性血管炎的其他表现形式
（全文终）
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