Ehlich P, Sadowski B, Zrenner E
Augenklinik der Otto-von-Guericke-Universität Magdeburg.
Ophthalmologe. 1997 Nov;94(11):801-6. doi: 10.1007/s003470050207.
An 11-year-old girl presented because of reduced visual acuity while color vision was almost normal. Besides a general ophthalmological examination, special psychophysical tests, such as perimetry, color vision tests using pseudoisochromatic plates, arrangement tests, the Nagel anomaloscope and spectral sensitivity measurement, and electrophysiological tests (electroretinogram and electrooculogram) were conducted.
The tests yielded the following: congenital nystagm, normal results at ophthalmoscopy, best visual acuity of 0.1 monocular and 0.2 binocular. Perimetry revealed a relatively central scotoma. All color vision tests showed only mild dysfunction of the blue-sensitive cones. Findings at photopic electroretinogram were almost completely lacking. There was no sign of progression in the last 6 years.
Differential diagnosis includes all diseases associated with congenital nystagm, such as aniridia, diseases of the optic nerve, albinism and all forms of hereditary cone dysfunction, cone dystrophies and complete and incomplete congenital stationary monochromatism. In the present case the findings are most congruent with oligocone trichromasy.
一名11岁女孩因视力下降就诊，而色觉基本正常。除了进行常规眼科检查外，还进行了特殊的心理物理学测试，如视野检查、使用假同色图的色觉测试、排列测试、内格尔色盲检查镜检查和光谱敏感度测量，以及电生理测试（视网膜电图和眼电图）。
测试结果如下：先天性眼球震颤，眼底镜检查结果正常，单眼最佳视力为0.1，双眼最佳视力为0.2。视野检查显示相对中央暗点。所有色觉测试仅显示蓝敏视锥细胞轻度功能障碍。明视视网膜电图检查结果几乎完全缺失。在过去6年中没有进展迹象。
鉴别诊断包括所有与先天性眼球震颤相关的疾病，如无虹膜、视神经疾病、白化病以及所有形式的遗传性视锥细胞功能障碍、视锥细胞营养不良和完全性及不完全性先天性静止性全色盲。在本病例中，检查结果与少视锥三色视觉最为相符。
