Table 3 of
Pan, Mol Vis 2012; 18:3013-3020. Table 3 of
Pan, Mol Vis 2012; 18:3013-3020.
Table 3. Summary of RHO mutations reported in Chinese patients with retinitis pigmentosa
| Mutation | Onset age | Phenotype description | Glaucoma | Family or sporadic | Reference |
|---|---|---|---|---|---|
| p.E341X | 23 | Mild | NO | F | [24] |
| p.F52Y | EC | Severe | NO | F | [25] |
| p.V104F | NA | NA | NO | S | [22] |
| p.A169P | 10 | Variety of clinical expression | NO | F | Current Study |
| p.P347L | 13–17 | Severe | YES* | S/F/F/S/F/S | [22,23,26-29] |
| p.P171L | 7 | Severe | YES | F | [30] |
| p.S176F | EC | NA | NO | F | [29] |
| p.D190Y | NA | Severe | NO | S | [29] |
| p.V210F | 4 | Severe | NO | S | [29] |
| p.I256del | 10 | NA | NO | F | [29] |
| p.K311E | NA | NA | NO | S | [22] |
| c.980delC(p.P327fs) | 30 | Mild | NO | F | [23] |
| p.Q344R | 16 | Severe | NO | F/AR | [31] |
| p.P347S | 7 | Severe | NO | F | [30] |
| p.P347Q | 5 | Severe | YES | F | Current Study |