[Clinical practice guidelines for retinitis pigmentosa]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Mar 10;37(3):295-299. doi: 10.3760/cma.j.issn.1003-9406.2020.03.012.
[Article in Chinese]

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.

MeSH terms

  • Genetic Heterogeneity
  • Humans
  • Practice Guidelines as Topic*
  • Retinitis Pigmentosa / diagnosis*
  • Retinitis Pigmentosa / therapy*