Table 1 of Meyer, Mol Vis 2010; 16:650-664.
Table 1. Summary of ophthalmological findings.
Patient |
Sex |
Age |
Symptoms |
Presenting visual acuity OD-OS | Current visual acuity OD-OS | Refraction |
Fundus |
ERG |
PERG |
Pattern and flash VEPs |
---|---|---|---|---|---|---|---|---|---|---|
IV:1 | F | 19 | Reduced vision since birth | 3/36–3/36 (14y) | 6/95–6/95 | −0.75/-0.25x180 −0.75/-0.25x180 | Bilateral marked temporal optic nerve pallor | Normal | N95:P50 ratio is subnormal and P50 is of short peak time bilaterally | Severely abnormal pattern and flash VEPs bilaterally. |
IV:2 | M | 17 | Reduced vision since birth; horizontal nystagmus; right exotropia | 6/60 – 6/60 (12y) | 6/120–6/60 | −0.75/-0.50x90 plano/-0.50x15 | Bilateral temporal optic nerve pallor | Normal | N95:P50 ratio is subnormal and P50 is of short peak time bilaterally | Severely abnormal pattern VEPs. Flash VEPs within normal limits. |