Rhodopsin and peripherin/RDS genes analysis in patient affected by Retinitis Pigmentosa

Retinitis Pigmentosa (RP) is a set of hereditary retinal disease in which photoreceptor cells degenerate. These include night blindness, a gradual loss of the peripheral visual field and eventually a loss in the central vision. The diseases, which affect 1-2 people out of 5.000 in most of the population studied, may be transmitted in autosomal dominant (ADRP), autosomal recessive (ARRP), X-linked, maternal and digenic modes. Sporadic cases also occur. We have screened 145 RP families, of which 20% were ADRP, 32% ARRP and 40% sporadic cases, at least in appearance. These families were screened for rhodopsin and peripherin/RDS mutations. Single Strand Conformation Polymorphism (SSCP) analysis revealed polymorphisms and rare sequences variants at the rhodopsin locus previously published by other authors; while in peripherin/RDS gene we report three missense mutations resulting in amino-acid changes in C-terminal region of the protein. These mutations were not present in control individuals and their lack in a control population suggest the possibility that they are disease-causing.