[Studies of ocular fundus and visual functions in Kearns-Sayre syndrome--with special reference to the new stage...

This paper describes the fundus appearance, visual function and electrophysiological findings in five cases of Kearns-Sayre syndrome. In three of them, retinopathy was not seen before the onset of this syndrome. The characteristic "salt and pepper retinopathy" progressed to peripapillary loss of the RPE and choriocapillaris over a period of some years. The ERG, normal in the beginning, became extinct in these cases. They were also at first subnormal for the scotopic as well as for the photopic activity. We distinguished five stages of ocular manifestations in Kearns-Sayre syndrome. Stage 0: The fundus appearance and the visual function are normal. Stage I: "Salt and pepper retinopathy" occurs in the entire retina but the visual function and the ERG are still normal. Stage II: Abnormal visual function and ERG occur with retinopathy. Stage III: A chorioretinal atrophy progresses around the disc and nasal retina and the ERG becomes extinct. Stage IV: The retinopathy demonstrates the appearance of choroidal sclerosis.