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.