Sadowski B, Zrenner E
Abteilung für Pathophysiologie des Sehens und Neuroophthalmologie, Universitäts-Augenklinik Tübingen.
Ophthalmologe. 1994 Dec;91(6):719-29.
Electrophysiological and psychophysical findings recorded in 70 patients with three hereditary diseases of the cone system,--blue cone monochromatism, cone-rod dystrophy and selective cone dystrophy--were compared. Blue cone monochromatism is distinguished from the other two diseases by a reduction of visual acuity since childhood, without progression and with a sex-linked mode of inheritance. In addition, nystagmus is generally observed only in the time shortly after birth and the green and red cones are found to be missing on spectral sensitivity measurements. Cone-rod dystrophy can be distinguished from the blue cone monochromatism by a reduction in visual acuity later in life with progression of the symptoms. Spectral sensitivity measurements reveal reduced function of all three cones in cone-rod dystrophy and a single cone mechanism in selective cone dystrophy. Moreover, in cone-rod dystrophy the ERG reveals a reduction in the amplitudes of the photopic system and often mild involvement of the scotopic part. Measurement of the spectral sensitivity and the ERG can thus help in the diagnosis of these three hereditary diseases.
对70例患有三种视锥系统遗传性疾病（蓝锥单色视、视锥-视杆营养不良和选择性视锥营养不良）的患者记录的电生理和心理物理学结果进行了比较。蓝锥单色视与其他两种疾病的区别在于，自幼视力下降，无进展，且为伴性连锁遗传模式。此外，通常仅在出生后短时间内观察到眼球震颤，并且在光谱敏感度测量中发现绿色和红色视锥缺失。视锥-视杆营养不良与蓝锥单色视的区别在于，后期随着症状进展视力下降。光谱敏感度测量显示，视锥-视杆营养不良中所有三种视锥功能均降低，而选择性视锥营养不良中存在单一视锥机制。此外，在视锥-视杆营养不良中，视网膜电图显示明视觉系统的振幅降低，暗视觉部分通常轻度受累。因此，光谱敏感度测量和视网膜电图有助于诊断这三种遗传性疾病。
