Heckenlively J R, Martin D A, Rosales T O
Arch Ophthalmol. 1981 Nov;99(11):1983-91. doi: 10.1001/archopht.1981.03930020859009.
The diagnosis of cone-rod dysfunction is made with the electroretinogram (ERG). Characteristically, the photopic ERG is worse than the scotopic ERG, and both are abnormal. Of a larger group of patients with retinal dystrophy, 20 cases of cone-rod dysfunction were identified. All patients had progressive disease, and all three main modes of inheritance were represented. There was remarkable similarity of findings among all patients, including temporal disc atrophy, telangiectasia of disc vessels, and little to no pigmentary retinal changes. Patients were not night-blind unless advanced disease was present. These patients suggest that neither telangiectasia nor temporal optic atrophy is pathognomonic for Leber's optic neuropathy nor dominant optic atrophy, respectively. Using a combination of electrophysiologic testing, fundus changes and modes of inheritance may prove helpful in better classifying the different types of retinal dystrophies, including retinitis pigmentosa.
视锥-视杆功能障碍的诊断通过视网膜电图（ERG）进行。其特征是，明视ERG比暗视ERG更差，且两者均异常。在一大组视网膜营养不良患者中，确诊了20例视锥-视杆功能障碍患者。所有患者均患有进行性疾病，且三种主要遗传模式均有体现。所有患者的检查结果都有显著相似性，包括颞侧视盘萎缩、视盘血管扩张，以及几乎没有或没有视网膜色素改变。除非病情进展到晚期，患者不会出现夜盲。这些患者表明，扩张和颞侧视神经萎缩分别对于Leber视神经病变和显性视神经萎缩都不是具有诊断意义的特征。结合使用电生理检查、眼底变化和遗传模式可能有助于更好地对不同类型的视网膜营养不良进行分类，包括色素性视网膜炎。
