Annals of Clinical Trials and Vaccines Research

Retinitis Pigmentosa Journals

Retinitis Pigmentosa (RP) is a category of hereditary heterogeneous disorders with a prevalence of 1 in 4,000 people worldwide. RP can be inherited in the form of autosomal, X-linked, or mitochondrial. X-linked RP (XLRP) is one of the most serious types of retinopathy, comprising between 10-20 per cent of all cases of RP. Mutations in the Retinitis Pigmentosa Gtpase Regulator (RPGR) gene are the main cause of XLRP, comprising 70 to 80 percent of the XLRP cases affected. The RPGR (RPGRex1-19) that was initially identified contains 19 exons and encodes for a predicted 90 KDa protein. A subsequent study identified the major functional form of a large C-terminal exon, called ORF15 (RPGRORF15). The exon ORF15 encodes a repetitive glycine and glutamic acid-rich domain with an evolutionarily retained simple C-terminal domain and harbors a high frequency of read-frameshift and premature stop mutations, generating variable length truncated proteins. Over 300 RPGR mutations were reported, most of them causing XLRP, a few causing human cone-rod, cone.

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