Han Kwang Eon, Lee Seung Min, Kim Su-Jin, Choi Heeyoung, Choi Jae Hwan
Department of Ophthalmology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, 20, Geumo-ro, Mulgeum-eup, Yangsan-si, Gyeongsangnam-do, 50612, South Korea.
Department of Ophthalmology, Pusan National University School of Medicine, Biomedical Research Institute, Pusan National University Hospital, Busan, Korea.
J Med Case Rep. 2025 Feb 21;19(1):65. doi: 10.1186/s13256-025-05101-9.
Multiple evanescent white dot syndrome is a rare posterior uveitis that presents with transient white dots in the retina, which may not always be visible at the time of diagnosis. The disease can mimic atypical optic neuritis owing to overlapping symptoms such as central visual field defect, relative afferent pupillary defect, and optic disc swelling. Here, we report a case of multiple evanescent white dot syndrome masquerading as atypical optic neuritis in a young female patient.
A 23-year-old female patient of Korean ethnicity presented with ocular pain and visual field defect in her left eye for 1 week. Her best corrected visual acuity was 20/20 in her right eye and 20/30 in her left eye. Pupillary size was 3 mm for both eyes. Relative afferent pupillary defect was detected in the left eye. The color vision test was normal for both eyes. A visual field test revealed blind spot enlargement in the left eye. On fundus examination, disc swelling was found in the left eye. Other abnormalities were not found. The patient was suspected of having atypical optic neuritis. Fluorescein angiography showed hyperfluorescent spots in the posterior pole and leakage from the disc in the left eye. Orbital magnetic resonance imaging did not show any abnormal findings or enhancement. A multifocal electroretinogram showed reduced amplitude for the involved area. There were relatively hyperautofluorescent lesions outside the fovea and hypoautofluorescent fovea on the blue-light fundus autofluorescence image. En face optical coherence tomography revealed multiple hyporeflective dots at the ellipsoid zone. Swept-source optical coherence tomography showed irregular cells in the ellipsoid zone with increased outer retinal thickness. On repeated fundus examination, multiple white dots were found (vaguely). The patient was diagnosed with multiple evanescent white dot syndrome and was able to recover in 6 weeks.
Patients with multiple evanescent white dot syndrome who present with disc swelling, ocular pain, and relative afferent pupillary defect might be misdiagnosed as having optic neuritis. In atypical optic neuritis, en face optical coherence tomography, blue-light fundus autofluorescence, and swept-source optical coherence tomography can aid in the differential diagnosis.
多发性一过性白点综合征是一种罕见的后葡萄膜炎，表现为视网膜出现一过性白点，在诊断时这些白点可能并不总是可见。由于存在诸如中心视野缺损、相对性传入瞳孔障碍和视盘肿胀等重叠症状，该疾病可能会被误诊为非典型性视神经炎。在此，我们报告一例年轻女性患者，其多发性一过性白点综合征伪装成非典型性视神经炎。
一名23岁的韩裔女性患者，左眼出现眼痛和视野缺损1周。其右眼最佳矫正视力为20/20，左眼为20/30。双眼瞳孔大小均为3毫米。左眼检测到相对性传入瞳孔障碍。双眼色觉测试正常。视野检查显示左眼盲点扩大。眼底检查发现左眼视盘肿胀，未发现其他异常。该患者被怀疑患有非典型性视神经炎。荧光素血管造影显示左眼后极有高荧光点且视盘有渗漏。眼眶磁共振成像未显示任何异常发现或强化。多焦视网膜电图显示受累区域振幅降低。蓝光眼底自发荧光图像上，黄斑中心凹外有相对高自发荧光病变，黄斑中心凹为低自发荧光。正面光学相干断层扫描显示椭圆体带处有多个低反射点。扫频光学相干断层扫描显示椭圆体带细胞不规则，外层视网膜厚度增加。在重复眼底检查时，（隐约）发现了多个白点。该患者被诊断为多发性一过性白点综合征，并在6周内康复。
出现视盘肿胀、眼痛和相对性传入瞳孔障碍的多发性一过性白点综合征患者可能会被误诊为视神经炎。在非典型性视神经炎中，正面光学相干断层扫描、蓝光眼底自发荧光和扫频光学相干断层扫描有助于鉴别诊断。
