TABLE 1.
Demographics, DHDDS genotypes, and D18/D19 ratios in plasma and urine
| Variable | arRP Patients with DHDDS Mutations (n = 9) | Carriers of DHDDS Mutations (n = 35) | arRP Patients with WT DHDDS (n = 34) | Normal Individuals (n = 19) |
| Gender | ||||
| Male | 5 | 13 | 18 | 11 |
| Female | 4 | 22 | 16 | 8 |
| Mean age in years (range) | 43.2 (34–55) | 46.1 (8–89) | 42.6 (14–75) | 43.1 (8–60) |
| Racea | ||||
| White | 9 | 35 | 31 | 13 |
| Other | 0 | 0 | 3 | 6 |
| Ashkenazi Jewish ethnicitya | 9 | 35 | 1 | 8 |
| DHDDS mutation | ||||
| K42E | 8 | 30 | ||
| T206A | 5 | |||
| K42E/T206A | 1 | |||
| Plasma D18/D19 ratiob | ||||
| WT | 0.84 ± 0.10 (n = 34) | 0.82 ± 0.12 (n = 16) | ||
| K42E | 2.84 ± 0.38 (n = 8) | 1.56 ± 0.11 (n = 25) | ||
| T206A | 1.31 ± 0.06 (n = 5) | |||
| K42E/T206A | 2.59 (n = 1) | |||
| Urinary D18/D19 ratiob | ||||
| WT | 0.46 ± 0.02 (n = 6) | 0.47 ± 0. 06 (n = 13) | ||
| K42E | 4.00 ± 0.45 (n = 8) | 1.27 ± 0.09 (n = 30) | ||
| T206A | 1.04 ± 0.04 (n = 5) | |||
| K42E/T206A | 3.39 (n = 1) |
a
Race and ethnicity were self-reported.
b
Data are presented as mean ± SD.