Table 1.
Demographic Data of TIP Cohort.
| Phenotype | No. of proband (%) | Age at examination (yr, mean ± SD) | Female sex | Onset age (yr, mean ± SD) | Patient with positive FH | Patient with negative FH |
|---|---|---|---|---|---|---|
| RP | 206 (66.0%) | 48.22 ± 15.15 | 108 (52.4%) | 30.65 ± 17.61 | 66 | 140 |
| MD | 39 (12.5%) | 40.91 ± 20.66 | 25 (64.1%) | 29.42 ± 19.25 | 9 | 30 |
| CD/CRD | 19 (6.1%) | 41.18 ± 14.64 | 7 (36.8%) | 3 ± 15.89 | 2 | 17 |
| LCA | 16 (5.1%) | 16.10 ± 13.10 | 5 (31.3%) | 3.75 ± 2.79 | 2 | 14 |
| BCD | 11 (3.5%) | 48.13 ± 11.75 | 10 (90.9%) | 36.64 ± 13.41 | 5 | 6 |
| OMD | 5 (1.6%) | 29.84 ± 15.57 | 3 (60.0%) | 18.75 ± 7.89 | 2 | 3 |
| RS | 4 (1.3%) | 19.35 ± 18.57 | 0 | 4.00 ± 3.46 | 3 | 1 |
| Choroideremia | 2 (0.6%) | 35.01 ± 15.38 | 0 | 4.50 ± 4.95 | 2 | 0 |
| FEVR | 2 (0.6%) | 2.05 ± 1.80 | 0 | 0.89 ± 0.16 | 1 | 1 |
| Alström syndrome | 2 (0.6%) | 4.83 ± 1.28 | 1 (50.0%) | 1.50 ± 0.71 | 1 | 1 |
| othersa | 6 (1.9%) | 48.66 ± 20.16 | 4 (66.7%) | 22.83 ± 21.02 | 2 | 4 |
| Total | 312 | 43.91 ± 18.15 | 163 (52.2%) | 28.17 ± 18.43 | 95 | 217 |
FH family history.
aOthers indicated that the phenotype is less than two probands or unclear phenotype in our cohort, including Congenital Stationary Night Blindness, vitreoretinochoroidopathy, Sorsby fundus dystrophy, and Oguchi disease.