A brief review of retinitis pigmentosa and the identifiedretinitis pigmentosa genes

[摘要] The family of inherited ocular diseases that is collectively known asretinitis pigmentosa is a major cause of progressive retinal diseaseworldwide. As such, this family of diseases has been the object of muchscientific scrutiny, both clinical and basic. The recent application ofmolecular genetic analyses has heralded the rapid elucidation of theunderlying gene defects in many cases. In this article, the fundamentalclinical and electroretinographic characteristics of retinitispigmentosa will be recalled. Additionally, the current understanding ofthe genetic causes of retinitis pigmentosa will be reviewed, and theidentified causative genes will be classified into groups related byfunction.

[学科分类] 生物化学/生物物理