Table 3 Summary of the comparison in ophthalmologic findings in autosomal dominant WFS1-associated optic neuropathy versus OPA1-associated dominant optic atrophy. PrVEP, pattern reversal visually evoked potentials; BE; recording of both eyes with 15’ block size.
Ophthalmological feature | AD WFS1-OA | DOA | p-value |
|---|---|---|---|
BCVA at last follow up (mean ± SD) | 0.42 ± 0.43 | 0.41 ± 0.23 | 0.96 |
Color vision | |||
Red–green | 8 (36%) | 1 (5%) | 0.001 |
Blue–yellow | 0 (0%) | 8 (36%) | |
Mixed | 2 (10%) | 4 (18%) | |
Normal | 4 (18%) | 1 (5%) | |
OCT | |||
Macula | OPL lamination | Normal OPL | NA |
Optic nerve head | Global thinning of RNFL | More prominent thinning of temporal RNFL | |
PrVEP (BE, 15’) | |||
Amplitude p100 (n/total) | Low (7/12) | Low (11/13) | 0.25 |
Normal (5/12) | Normal (2/13) | ||
Latency p100 (n/total) | Prolonged (8/12) | Prolonged (3/13) | 0.06 |
Normal (4/12) | Normal (10/13) |
