Pagon R A
Department of Pediatrics, University of Washington School of Medicine, Seattle.
Surv Ophthalmol. 1988 Nov-Dec;33(3):137-77. doi: 10.1016/0039-6257(88)90085-9.
Retinitis pigmentosa is a clinically and genetically heterogeneous group of hereditary disorders in which there is progressive loss of photoreceptor and pigment epithelial function. The prevalence of retinitis pigmentosa is between 1/3000 and 1/5000 making it one of the most common causes of visual impairment in all age groups. The natural history, differential diagnosis, diagnostic clinical and electrophysiologic findings are reviewed. Generalization about the different genetic subtypes of retinitis pigmentosa are reviewed along with the uses of DNA probes for linkage studies. Syndromes in which retinitis pigmentosa is a manifestation are summarized.
视网膜色素变性是一组临床和遗传异质性的遗传性疾病，其中光感受器和色素上皮功能会逐渐丧失。视网膜色素变性的患病率在1/3000至1/5000之间，使其成为所有年龄组中导致视力损害的最常见原因之一。本文综述了其自然病史、鉴别诊断、诊断性临床和电生理检查结果。还综述了视网膜色素变性不同遗传亚型的概况以及DNA探针在连锁研究中的应用。总结了以视网膜色素变性为表现的综合征。
