Progress in research on pathogenic genes of retinitis pigmentosa / 中华眼底病杂志
Chinese Journal of Ocular Fundus Diseases
;
(6): 605-608, 2018.
Article
Dans Chinois
| WPRIM
| ID: wpr-711975
ABSTRACT
Retinitis pigmentosa (RP) is a group of hereditary blinding fundus diseases caused by abnormalities in photoreceptors of the retina.RP is highly heterogeneous in hereditary and cdinical phenotypes.It can be divided into simple type RP and syndrome type RP.The main inheritance patterns are autosomal dominant,autosomal recessive inheritance and X-linked inheritance.With the popularization and clinical application of gene sequencing technology,more and more disease-causing genes have been discovered,and these genes are mainly expressed in photoreceptor cells and retinal pigment epithelial cell.ln-depth understanding of RP pathogenic genes not only provides a theoretical basis for RP diagnosis and genetic counseling,but also provides guidance for RP gene therapy.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Type d'étude:
Guide de pratique
langue:
Chinois
Texte intégral:
Chinese Journal of Ocular Fundus Diseases
Année:
2018
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS