Godel V, Iaina A, Nemet P, Lazar M
Br J Ophthalmol. 1980 Feb;64(2):124-6. doi: 10.1136/bjo.64.2.124.
In a patient with juvenile nephronophthisis, sector retinitis pigmentosa was found as an extrarenal manifestation, establishing a hitherto undescribed variety of retinal degeneration occurring in this disorder. The retinal function in this case was identical with that in the classic type of sector retinitis pigmentosa, namely, subnormal ERG amplitudes but normal cone and rod implicit times. The range of the retinal findings and their autosomal recessive transmission are discussed. Paucity of information makes it difficult to elucidate the basic genetic defect operating in this condition.
在一名青少年肾单位肾痨患者中，发现扇形视网膜色素变性作为一种肾外表现，确立了这种疾病中一种迄今未描述的视网膜变性类型。该病例的视网膜功能与经典型扇形视网膜色素变性相同，即视网膜电图（ERG）振幅低于正常，但视锥和视杆细胞的潜伏时间正常。讨论了视网膜病变的范围及其常染色体隐性遗传方式。信息匮乏使得难以阐明在此情况下起作用的基本遗传缺陷。
