Levy N S
Am J Ophthalmol. 1978 Oct;86(4):553-6. doi: 10.1016/0002-9394(78)90306-9.
A 5-month-old girl with retinitis pigmentosa was the healthy offspring of a family with progressive autosomal dominant retinitis pigmentosa. Serial evaluation by both electroretinograph and ophthalmoscopy over a four-year period confirmed the diagnosis and indicated that as early as 5 months of age, electroretinographic abnormalities were present in the patient. These consisted of a reduction in the dark-adapted b-wave amplitude, prominent X-wave, and no suppression of the second b-wave response to paired light stimuli at 75 msec. Progressive reduction in the scotopic electroretinography amplitude has occurred over the ensuing four years, although light-adapted (cone) function still appears normal. Clinical evidence of retinitis pigmentosa became apparent only late in the patient's third year when fine peripheral pigment clumping and vessel attentuation could be seen.
一名患有视网膜色素变性的5个月大女孩是一个患有进行性常染色体显性视网膜色素变性家族的健康后代。在四年的时间里，通过视网膜电图和检眼镜进行的系列评估证实了诊断，并表明早在患者5个月大时，视网膜电图就出现了异常。这些异常包括暗适应b波振幅降低、明显的X波，以及在75毫秒时对成对光刺激的第二个b波反应无抑制。在随后的四年里，暗视视网膜电图振幅逐渐降低，尽管明适应（视锥）功能似乎仍正常。视网膜色素变性的临床证据直到患者第三年末才变得明显，此时可以看到周边细微的色素聚集和血管变细。
