Rhodopsin mutations in Chinese patients with retinitis pigmentosa.

AIM To determine the pattern of rhodopsin mutations in Chinese retinitis pigmentosa (RP) patients. METHODS The rhodopsin gene was examined in 101 RP patients and 190 controls from Hong Kong. RESULTS Three coding changes were identified: Pro347Leu, Ala299Ser, and 5211delC. Each protein sequence alteration was found in one patient. Ala299Ser also existed in two controls. CONCLUSION The C-terminal nonsense mutation may cause mis-sorting of rhodopsin protein. The finding of controls with Ala299Ser suggests this is only the third missense alteration reported that does not cause RP. The expected frequency of rhodopsin mutations in RP is <7% (2/101=2.0%, 95% confidence interval: 0.2%-7.0%).