Progress of gene research on autosomal recessive retinitis pigmentosa

Abstract

Retinal pigmentosa(RP)is a hereditary blinding retinal disease whose pathogenesis is not fully understand. It is characterized by night blindness, progressive narrowing visual field and vision decreased. Bone spicule-shaped pigment,retinal vessel attenuation and pallor optic disc can be seen at the fundus.RP is geneticallyand phenotypically heterogeneous, autosomal recessive retinitis pigmentosa accounts for 5%-20% of RP. There are 43 pathogenic genes have been mapped in autosomal recessive retinitis pigmentosa(ARRP), 40 of them have been cloned, and new related pathogenic genes have been reporting. This article reviewsthe newest progress of the research in AGBL5, ARHGEF18, HGSNAT and ZNF408 gene relevant to ARRP.

Keywords

• retinal pigmentosa
• autosomal recessive
• gene
• research progress