Curtis R, Barnett K C, Leon A
Invest Ophthalmol Vis Sci. 1987 Jan;28(1):131-9.
The clinical and pathological features of an early-onset autosomal dominant photoreceptor degeneration in the Abyssinian cat are described. Ophthalmoscopic evidence of retinal disease at 8-12 weeks of age was always preceded by marked dilatation of the pupils, impairment of the pupillary light reflex, and nystagmus. The electroretinogram was unrecordable in all but one of the affected individuals examined. Abnormal photoreceptor development was observed by both light and electron microscopy in retinas of a 22-day-old kitten; in this individual, no outer segment material was detected, and inner segments showed impaired development which was more severe towards the posterior pole. In a 40-day-old kitten, the inner segments were relatively well-formed, whereas the outer segments, though present, showed marked disorganization and degenerative change. The retinas of older individuals showed more advanced photoreceptor degeneration, with thinning of the neural retina. This early-onset retinopathy, which may be classified as a rod-cone dysplasia, is distinct from the hereditary retinal dystrophy (progressive retinal atrophy) previously described in this breed. The gene symbol Rdy has been adopted.
本文描述了阿比西尼亚猫早发性常染色体显性遗传性光感受器变性的临床和病理特征。在8至12周龄时出现视网膜疾病的眼底镜证据之前，总是先出现瞳孔明显扩大、瞳孔光反射受损和眼球震颤。在所有接受检查的患病个体中，除一只外，视网膜电图均无法记录。在一只22日龄小猫的视网膜中，通过光学显微镜和电子显微镜均观察到光感受器发育异常；在这只小猫中，未检测到外节物质，内节显示出发育受损，且后极部更为严重。在一只40日龄小猫中，内节相对发育良好，而外节虽然存在，但显示出明显的结构紊乱和退行性变化。年龄较大个体的视网膜显示出更严重的光感受器变性，神经视网膜变薄。这种早发性视网膜病变可归类为视杆-视锥发育不良，与该品种先前描述的遗传性视网膜营养不良（进行性视网膜萎缩）不同。已采用基因符号Rdy。
