| 视网膜色素变性的临床实践指南 |
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| 引用本文： | 无,杨正林,杨季云,张清炯,李杨.视网膜色素变性的临床实践指南[J].中华医学遗传学杂志,2020(3):295-299. |
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| 作者姓名： | 无 杨正林 杨季云 张清炯 李杨 |
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| 作者单位： | 中华医学会医学遗传学分会遗传病临床实践指南撰写组;电子科技大学医学院、电子科技大学附属医院·四川省人民医院人类疾病基因研究重点实验室;中山大学中山眼科中心;首都医科大学附属北京同仁医院;北京同仁眼科中心;北京市眼科研究所;眼科学与视觉科学北京市重点实验室 |
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| 摘 要： | 视网膜色素变性(retinitis pigmentosa,RP)是一类由视杆细胞首先受累为主的进行性遗传性视网膜变性疾病。初期以视杆细胞功能异常为主,同时或随后可合并视锥细胞功能异常。随着疾病的进展,视功能进行性受损,直至全盲,眼底出现以色素异常为主的多种形态的视网膜变性改变。RP具有高度的遗传异质性和表型多样性。已发现的致病基因有90个。本指南从RP的病因与发病机制、疾病诊断、临床咨询等方面进行总结,旨在规范其临床诊疗,供临床医师参考。
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| 关 键 词： | 视网膜色素变性 实践指南 |
Clinical practice guidelines for retinitis pigmentosa |
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| Institution: | (Writing Group for Practice Guidelines for Diagnosis and Treatment of Genetic Diseases,Medical Genetics Branch of Chinese Medical Association;不详) |
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| Abstract: | Retinitis pigmentosa(RP)is a group of hereditary retinitis disorders which mainly affect the rod cells.In the early stage,the function of rod cells is affected.At the same time or later,the function of cone cells can also be affected.With the progress of the disease,the visual function is gradually damaged until the patient becomes completely blind.Many types of morphological changes suggestive of retinal degeneration may be noticed in the fundus,in particular pigment abnormality.RP features great genetic heterogeneity and phenotypic diversity.Over 90 pathogenic genes have so far been discovered.This guideline aims to standardize the clinical diagnosis and treatment of RP from the aspects of etiology,pathogenesis,genetic diagnosis and clinical consultation. |
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| Keywords: | Retinitis pigmentosa Practice guideline |
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