Clinical features of patients without signs of optic neuropathy
| Case no. | OA | Gender | Follow-up time | Age | VA 1 RE/LE | VA 2 RE/LE | Ophthalmic findings | Systemic disease progression |
|---|---|---|---|---|---|---|---|---|
| 1 | MMA | M | 7 months | 16 | 6/7.5 6/7.5 | 6/7.5 6/7.5 | Normal colour vision and fundoscopy Delayed pVEP. ERG not tested | Onset infancy (6 months) Renal impairment 1st decade with renal transplant Extra pyramidal choreo-athetoid movement disorder secondary to basal ganglia metabolic stroke |
| 2 | MMA | M | 36 months | 2 | 6/9 CC binocular | 6/9 CC binocular | Small angle esotropia, ocular apraxia, nystagmus Normal fundoscopy. Absent pVEP, normal fVEP, normal ERG | Global neurodevelopmental delay Renal failure on peritoneal dialysis since aged 3 |
| 3 | MMA | M | 15 months | 2 | 6/12 CC binocular | 6/12 CC binocular | Normal fundoscopy | Neonatal onset Colitis and dermatitis |
| 4 | PA | M | 22 months | 8 | 6/6 6/6 | 6/6 6/6 | Normal fundoscopy | Neonatal onset Autistic disorder |
| 5 | PA | M | NA | 12 | NA | NA | Alternating esotropia Normal fundoscopy | Onset in infancy Developmental delay Myopathy, prolonged Q-T |
Age, recorded at first ophthalmic examination; CC, Cardiff Cards; ERG, electroretinogram; F, female; fVEP, flash visual evoked potential; LE, left eye; M, male; MMA, methylmalonic acidemia; NA, not available; OA, organic acidemias; PA, propionic acidemia; pVEP, pattern visual evoked potential; RE, right eye; VA 1, initial visual acuity; VA 2, final visual acuity.