Schoon D V, Harris M
Metab Pediatr Syst Ophthalmol. 1982;6(2):107-15.
Electroretinographic studies have been helpful in differentiating human forms of retinitis pigmentosa inherited by different patterns. The prognosis appears to be correlated with the mode of inheritance. The recessively inherited form along with the x-linked and dominantly inherited with reduced penetrance type of inheritance are associated with more severe forms of the disease than is the dominantly inherited with complete penetrance. The underlying biochemical defects have not been identified. Human pathological specimens early in the disease have been almost nonexistent. Animal models have been identified but correlation with human disease has been markedly limited [1]. Electrophysiology and recent technology offer some prospect for differentiating responsible abnormalities and offer a noninvasive evaluation of the disease process and treatment. Three cases of dominantly inherited retinitis pigmentosa with complete penetrance are presented. These show a decreasing B-wave amplitude on successive photopic evaluations using fast random stimuli.
视网膜电图研究有助于区分不同遗传模式的人类色素性视网膜炎。预后似乎与遗传方式相关。隐性遗传形式以及X连锁遗传和显性遗传但外显率降低的遗传类型，与比完全外显的显性遗传形式更严重的疾病形式相关。潜在的生化缺陷尚未明确。疾病早期的人类病理标本几乎不存在。已经确定了动物模型，但与人类疾病的相关性明显有限[1]。电生理学和最新技术为区分相关异常提供了一些前景，并为疾病过程和治疗提供了非侵入性评估。本文介绍了三例完全外显的显性遗传性色素性视网膜炎病例。这些病例在使用快速随机刺激进行连续明视觉评估时，B波振幅逐渐降低。
