Clinical features of patients with signs of optic neuropathy
| Case no. | OA | Gender | Follow- up time | Age | VA 1 RE/LE | VA 2 RE/LE | Ophthalmic findings | Clinical presentation Acute/progressive | Systemic disease progression |
|---|---|---|---|---|---|---|---|---|---|
| 6. | MMA | M | 20 months | 12 | 6/38 6/38 | LP 6/48 | Bilateral ONP Absent pVEP and fVEP Attenuated ERG (dark-adapted more so than light-adapted) Exotropia | Progressive loss of vision over 2 years. Further drop in VA to LP and CF during AMD and episode of PRES | Neonatal onset Poor weight gain Renal failure in the 1st decade of life with renal transplant MRI changes basal ganglia Behavioural problems Deceased 3 years after ON diagnosis |
| 7. | MMA | M | 48 months | 6 | 6/48 6/15 | 6/48 6/48 | Bilateral temporal ONP Absent pVEP and fVEP Attenuated ERG (dark-adapted more so than light-adapted) Esotropia | Insidious (‘struggle with eyes’) with low gradual decline in the left eye to match VA in fellow eye | Neonatal onset Encephalopathy and severe acidosis as a new-born Learning difficulties Mild renal failure in the 1st decade of life |
| 8. | MMA | F | 15 months | 12 | 6/60 6/60 | 6/9.5 6/30 | Mild bilateral temporal ONP OCT RNFL thinning Dyschromatopsia | Acute onset during AMD, decline over 3 months from initial VA record of 6/7.5 and 6/9 with spontaneous partial recovery 4 months later | Neonatal onset Basal ganglia infarct at age 3, movement disorders Renal end-stage impairment during 1st decade. Cardiac: long Q-T Multiple periods of AMD |
| 9. | MMA | M | NA | 10 | 1/60 1/60 | NA | Bilateral ONP | Undetermined | Infancy onset (4 months) Renal failure 1st decade of life with renal transplant Inferior limb spasticity Haemorrhagic pancreatitis Deceased months after ONP diagnosis |
| 10. | PA | M | 12 months | 14 | 6/12 6/36 | 6/24 1/60 | Normal optic discs Dyschromatopsia Absent pVEP, reduced fVEP Attenuated dark-adapted ERG Esotropia | Insidious Detected on screening for esotropia/ hypermetropia Progressive decline of VA over 12 months | Infancy onset (45 months) Encephalopathy as an infant with seizures and resolved dystonia Basal ganglia changes MRI Learning difficulties Developmental delay+ Prolonged QT Congenital hypothyroidism |
| 11. | PA | M | NA | 7 | Fix and follow toy BE | NA | Bilateral severe ONP | Insidious Detected on screening due to temporary esotropia in episode of metabolic decompensation | Neonatal presentation Developmental delay ++ Seizures Multiple admissions for decompensation Borderline long Q-T |
| 12. | PA | F | 34 months | 11 | HM 6/60 | HM CF | Bilateral temporal ONP Dyschromatopsia Absent pVEP and fVEP Attenuated ERG (dark-adapted more so than light-adapted) | Acute onset/ worsening of previous undetected ON during acute metabolic decompensation and pancreatitis. No response to CoQ10. Optic cupping developed months later, with slow deterioration over 2 years | Neonatal presentation Multiple admissions for AMD Acute pancreatitis Generalised myopathy with dyspnoea Prolonged Q-T |
Age, recorded at first ophthalmic examination; AMD, acute metabolic decompensation; CF, counting fingers; CoQ10 co-enzymeQ10; ERG, electroretinogram; F, female; fVEP, flash visual evoked potential; HM, hand movements; LE, left eye; LP, light perception; M, male; MMA, methylmalonic acidemia; NA, not available; OA, organic acidemias; OCT, optical coherence tomography; ON, optic neuropathy; ONP, optic nerve pallor; PA, propionic acidemia; PRES, posterior reversible encephalopathy syndrome; pVEP, pattern visual evoked potential; RE, right eye; RNFL, retinal nerve fibre layer; VA 1, initial visual acuity; VA 2, final visual acuity.