Table.
ID |
Disease Status |
ARL3
Genotype |
Age (y) |
Age of Onset of Symptoms |
Best-Corrected Visual Acuity: OS;OD |
Refraction |
Color Vision |
Photophobia: OS/OD |
ERG Status |
LUSG-03 | |||||||||
IV:4 | Normal | WT/M | 8 | NA | 6/6;6/6 | 0.00 | Normal | Neg | Normal rod and cone response |
V:3 | Normal | WT/M | 32 | NA | 6/6;6/6 | 0.00 | Normal | Neg | Normal rod and cone response |
IV:3 | Affected | M/M | 25 | First decade | 6/36;6/36 | −5.5/−5.5 | Normal | ++/++ | Mildly reduced scotopic amplitudes with normal implicit time, severely reduced photopic amplitudes and very delayed implicit times OU |
V:1 | Affected | M/M | 24 | First decade | 6/36;6/36 | −5.25/−5.50 | Impaired | ++/++ | Normal scotopic, reduced photopic amplitudes (severe OD, moderate OS), delayed implicit times OU |
V:5 | Affected | M/M | 29 | First decade | 6/60;6/60 | −5.75/−5.50 | Normal | +/+ | Normal scotopic, severely reduced photopic amplitudes OU |
V:7 | Affected | M/M | 44 | First decade | 6/24;6/24 | −6.50/−6.0 | Impaired | +/+ | Normal scotopic, severely reduced photopic amplitudes OU |
LUSG-04 | |||||||||
IV:1 | Affected | M/M | 30 | First decade | 6/36;6/36 | −5.0/−5.0 | Normal | +/+ | Reduced amplitudes OU |
IV:2 | Affected | M/M | 25 | First decade | 6/24;6/24 | −4.0/−4.75 | Normal | +/+ | Reduced amplitudes OU |
IV:5 | Affected | M/M | 11 | First decade | 6/9;6/9 | −3.25/−2.50 | Impaired | +/+ | Moderately reduced photopic amplitudes OU, poor scotopic rod responses but normal scotopic combined responses OU (possibly insufficient dark adaptation time) |
M, mutant; NA, not applicable; Neg, negative; WT, wild type.