Table 1.
Clinical features of 10 probands
| ID | Sex | Diagnosis | Initial sympton | NYS | Age of onset (y) | Age at visit (y) | BCVA (decimal) OD/OS | ERG (scotopic/photopic) | VF |
|---|---|---|---|---|---|---|---|---|---|
| F1-III:4 | M | RP, HM | Night blindness | N | 39 | 46 | 0.4/0.6 | NA | Constricted |
| F2-III:3 | M | RP, MC | Night blindness. Central vision impairment | N | < 1 | 27 | 0.1/0.1 | Both severely reduced | NA |
| F3-III:5 | F | RP | Night blindness | N | 20 | 51 | LP | NA | NA |
| F4-III:4 | F | RP | Night blindness | N | 20 | 60 | HM/HM | Both severely reduced | NA |
| F5-III:1 | M | RP | Night blindness | N | 14 | 34 | 0.5/0.6 | Both severely reduced | Constricted |
| F6-III:1 | F | RP | Night blindness | N | 6 | 23 | 0.8/0.6 | Severely reduced/slightly reduced | Constricted |
| F7-III:4 | M | CORD, POAG | Central vision impairment | N | 40 | 45 | CF at 1 m/0.02 | Both severely reduced | Central scotoma |
| F8-III:5 | F | CORD | Central vision impairment | N | 32 | 43 | CF at 40 cm/0.01 | Both severely reduced, greater loss in cone | Central scotoma |
| F9-III:2 | M | BCD | Night blindness | N | 43 | 44 | 0.6/0.8 | Severely reduced/slightly reduced | Constricted |
| F10-III:1 | F | LCA | Vision impairment | Y | < 1 | 29 | HM/HM | Extinguished | NA |
NYS, Nystagmus; M, male; F, female; RP, retinitis pigmentosa; HM, high myopia; MC, coloboma-like lesions in macula; CORD, cone and rod dystrophy; POAG, primary open-angle glaucoma; BCD, Bietti crystalline dystrophy; BCVA, best corrected visual acuity; OD, right eye; OS, left eye; VF, visual field; ERGs, Electroretinograms; NA, not available