Table 2.
Clinical characteristics of the 20 patients identified in this study
| Patients | Age (years) /sex | BCVA LogMAR R/L |
Refraction R/L |
Age at disease presentation (years) | ERG | Fundus | Others | Diagnosis |
|---|---|---|---|---|---|---|---|---|
| F1-1 | 12/F | 0/0.05 | + 0.5/ + 0.75 | Congenital | Undetectable rod ERG, subnormal cone ERG | a | No | FAP |
| F2-1 | 6/M | 0.60/0.82 | − 0.5/− 2.0 | Congenital | Extinct | a, b | Nystagmus | LCA 2 |
| F3-1 | 7/M | 0.40/0.40 | − 4.0/− 3.75 | Congenital | Extinct | N | Nystagmus | LCA 2 |
| F4-1 | 15/M | 0.52/0.52 | − 3.5/− 3.0 | Congenital | Extinct | a, b | Nystagmus | LCA 2 |
| F4-2 | 3/F | 1.00/1.00 | + 0.5/ + 0.75 | Congenital | Extinct | N | Nystagmus | LCA 2 |
| F5-1 | 9/F | 1.30/0.70 | + 4.5/ + 4.5 | Congenital | Extinct | a | Nystagmus | LCA 2 |
| F6-1 | 10/M | 0.22/0.40 | − / + 0.5 | 3 | Profoundly attenuated rod and cone ERGs | N | No | RP 20 |
| F6-2 | 9/F | 0.40/0.40 | − / + 0.25 | 3 | Profoundly attenuated rod and cone ERGs | a | No | RP 20 |
| F7-1 | 29/M | 1.00/3.00 | – | Congenital | Extinct | b | Nystagmus | LCA 2 |
| F7-2 | 31/M | 1.3/1.3 | – | Congenital | Extinct | b | Nystagmus | LCA 2 |
| F8-1 | 7/F | 1.00/0.13 | + 1.5/ + 2.25 | Congenital | Extinct | a | Nystagmus | LCA 2 |
| F9-1 | 11/M | 0.52/0.40 | − 0.5/− 0.5 | Congenital | Profoundly attenuated rod and cone ERGs | a | No | RP 20 |
| F10-1 | 49/F | 3.00/3.00 | – | Congenital | Extinct | b | Nystagmus | LCA 2 |
| F11-1 | 20/M | 1.00/1.00 | − 2.25/− 1.75 | Congenital | Profoundly attenuated rod and cone ERGs | N | Nystagmus | LCA 2 |
| F12-1 | 31/F | 1.00/1.00 | − 1.0/− 1.25 | Congenital | Extinct | b | Nystagmus | LCA 2 |
| F13-1 | 9/F | 0.52/0.40 | + 2.5/ + 2.25 | Congenital | Extinct | N | Nystagmus, oculo-digital sign | LCA 2 |
| F14-1 | 5/F | 0.60/0.70 | + 2.25/ + 3.0 | Congenital | Extinct | N | Nystagmus, esotropia | LCA 2 |
| F15-1 | 5/M | 0.82/1.00 | + 2.0/ + 2.25 | Congenital | Extinct | N | Nystagmus | LCA 2 |
| F16-1 | 30/M | 2.00/2.00 | − /− | Congenital | Extinct | N | Nystagmus | LCA 2 |
| F17-1 | 30/F | 0.30/0.40 | -4.0/-4.5 | Congenital | Profoundly attenuated rod and cone ERGs | N | No | RP 20 |
F: family; R: right; L: left; LP = 3 LogMAR; HM = 2 LogMAR; a. white or white-yellow dots; b. Bone-spicule-like pigment; deposits; N: no a or b; LCA: Leber congenital amaurosis; RP: retinitis pigmentosa; FAP: fundus albipunctatus