Table 2 of
Xu, Mol Vis 2012; 18:3021-3028. Table 2 of
Xu, Mol Vis 2012; 18:3021-3028.
Table 2. Clinical data of probands from families with adRP due to PRPF31 mutations.
| Family/patient | Age at time of testing | Sex | Symptoms at time of diagnosis | BCVA OD/OS | Lens | Fundus examination |
|---|---|---|---|---|---|---|
| ADRP-HT/III:1 | 27 | M | Night blindness | 20/20 20/20 | Clear | Normal disc color, multiple bone spicules in the mid- periphery retina |
| ADRP-LG/III:9 | 24 | M | Night blindness | 20/20 20/20 | Clear | RPE atrophy in the temporal area of optic disc |
| ADRP-LLN/III:1 | 27 | F | Night blindness | 20/40 20/50 | Clear | Multiple bone spicules in the mid- periphery retina |
| ADRP-XL/IV:1 | 27 | M | Night blindness | 20/25 20/25 | Posterior subcapsular cataracts (OU) | Multiple bone spicules in the mid- periphery retina |