Table 1
Summary of clinical findings
| Patient | Age | VA | Refraction | Horizontal pendular nystagmus | ERG | Fundus | M-R colour vision test |
|---|---|---|---|---|---|---|---|
| ERG = counting fingers; M-R = Mollon-Reffin test. The letters give the axis P = protan, D = deutan, and T = tritan. The number in parentheses gives the least saturated chip that could be discriminated from the greys; VI:3 has a right sided congenital cataract. | |||||||
| V:2 | 35 | R CF | −3.5/+3.0×30 | Prominent | Absent 30 Hz cone responses; | Abnormal foveal appearance | P(no)D(no)T(no) |
| L CF | −4.0/+3.0×160 | Normal rod specific responses | P(no)D(no)T(no) | ||||
| V:4 | 41 | R 6/60 | −2.0/+2.0×110 | Absent | Absent 30 Hz cone responses; | Abnormal foveal appearance | P(no)D(no)T(no) |
| L 6/60 | −2.5/+1.5×70 | Normal rod specific responses | P(no)D(no)T(no) | ||||
| V:7 | 44 | R CF | −2.0/+2.0×135 | Prominent | Absent 30 Hz cone responses | Abnormal foveal appearance | P(no)D(7)T(5) |
| L CF | −1.5/+1.5 ×45 | Normal rod specific responses | P(no)D(6)T(5) | ||||
| VI:1 | 20 | R 6/60 | +1.5/+1.5×110 | Absent | Absent 30 Hz cone responses | Abnormal foveal appearance | P(no)D(7)T(4) |
| L 6/60 | +1.0/+2.0×80 | Normal rod specific responses | P(no)D(no)T(5) | ||||
| VI:3 | 19 | R CF | Balance | Minimal | Absent 30 Hz cone responses | Abnormal foveal appearance | NA |
| L 6/60 | −2.0/+3.0×75 | Normal rod specific responses | P(no)D(6)T(5) | ||||
