Department of Ophthalmology, Juntendo University Faculty of Medicine, Hongo 3-1-3, Bunkyo-ku, Tokyo, 113-8431, Japan.
Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Jpn J Ophthalmol. 2021 Jan;65(1):42-53. doi: 10.1007/s10384-020-00780-x. Epub 2020 Nov 12.
To establish with negative electroretinogram (ERG) the clinical entity of eight patients with unilateral severe photophobia, essentially normal fundus, good visual acuity, and severe cone and rod dysfunction.
Multicenter retrospective observation case series.
Comprehensive ophthalmologic examinations were performed, including best-corrected visual acuity (BCVA), full-field ERGs and multifocal ERGs (mfERGs), fundus photographs, and OCT. Systemic and genetic examinations were performed.
The mean (± SD) age at the onset was 60.0 ± 8.4 years, and the six patients noticed severe photophobia in the affected eye in spite of almost normal fundus appearance and good BCVA. The dark-adapted bright flash ERGs in the affected eye had relatively well-preserved a-waves and depressed b-waves, i.e., a negative ERG. Cone ERGs and both b- and d-waves of the photopic long-duration ERGs were almost undetectable. Rod ERGs were severely reduced; however, only two patients complained of night blindness. In five patients, the mfERGs were extinguished in the periphery but preserved in the central retina, resulting in good BCVA. Electrophysiological findings indicated a severe diffuse dysfunction of the inner retina affecting bipolar cells of both ON- and OFF-pathways, and in five patients there was a reduction in the thickness of the inner nuclear layer. In seven patients the retinal arteries were attenuated. Anti-retinal antibodies were detected in the serum of two patients. No genetic causes were found.
The common features in the eight patients with unilateral negative ERGs suggest a new disease entity of unilateral acute inner retinal layer dysfunction. In most patients, the only subjective complain was photophobia.
通过负视网膜电图（ERG）确定 8 例单侧严重畏光、眼底基本正常、视力良好、严重视锥和视杆功能障碍患者的临床实体。
多中心回顾性观察病例系列。
进行全面的眼科检查，包括最佳矫正视力（BCVA）、全视野 ERG 和多焦 ERG（mfERG）、眼底照相和 OCT。进行系统和遗传检查。
发病时的平均（±SD）年龄为 60.0±8.4 岁，6 例患者注意到受影响眼中严重畏光，尽管眼底外观几乎正常且 BCVA 良好。受影响眼中暗适应亮闪烁 ERG 的 a 波相对保存，b 波压低，即负 ERG。明适应长时程 ERG 的视锥 ERG 和 b-和 d-波几乎无法检测到。视杆 ERG 严重降低；然而，只有两名患者抱怨夜盲。在 5 例患者中，mfERG 在周边部熄灭，但在中央视网膜保留，导致 BCVA 良好。电生理结果表明，内视网膜的严重弥漫性功能障碍影响 ON 和 OFF 通路的双极细胞，在 5 例患者中，内核层厚度减少。在 7 例患者中，视网膜动脉减弱。在 2 例患者的血清中检测到抗视网膜抗体。未发现遗传原因。
8 例单侧负 ERG 患者的共同特征提示单侧急性内视网膜层功能障碍的新疾病实体。在大多数患者中，唯一的主观抱怨是畏光。
