It is marked by a mutation in a gene known as RPE65 which results in a missing enzyme that leads to degradation of the retina and the disruption of vision processing in the brain.
这种病的特点是，一段名为RPE65的基因发生变异，导致缺失，进而引起视网膜退化，大脑视觉处理中断。
2
Intronic mutations may affect gene regulation through aberrant splicing or disruption of critical DNA protein interactions.
内含子突变可以通过引起剪接异常或关键性DNA -蛋白反应中断而影响基因调控。
3
Most importantly, such a precise genedisruption in the nervous system will allow us to study specific roles of candidate genes in neurodegenerative diseases that afflict the aging.