Table 2.
Clinical characteristics of the affected pedigree members participating in this study
| Patient | Current age (year) | Gender | Age of onset (year) | Visual acuity | Fundus appearance |
|---|---|---|---|---|---|
| W13-0007: IV-3 | 34 | F | 6 | Hand motion | Peripheral bone spicules, attenuated retinal blood vessels, macular degeneration |
| W13-0007: IV-4 | 32 | F | 8 | OD: 5/10 OS: 5.5/10 | Peripheral bone spicules, attenuated retinal blood vessels, macular degeneration |
| W13-1504: V-3 | 49 | F | 3 | LP+ | Peripheral bone spicules, attenuated retinal blood vessels, macular coloboma, nystagmus, cataract |
| W13-1504: V-6 | 39 | F | 3 | LP+ | Peripheral bone spicules, attenuated retinal blood vessels, macular coloboma, nystagmus, cataract |
| W13-1493: IV-3 | 60 | M | 4 | TB | Not applicable because of severe cataract |
| W13-1493: IV-7 | 43 | M | 4 | LP+ | Peripheral bone spicules, attenuated retinal blood vessels, macular degeneration |
F, female; M, male; TB, total blindness; LP+, light perception; OD, oculus dexter, right eye; OS, oculus sinister, left eye.