Table 1

Clinical features of patients without signs of optic neuropathy

Case no.OAGenderFollow-up timeAgeVA 1
VA 2
Ophthalmic findingsSystemic disease progression
1MMAM7 months166/7.5
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
2MMAM36 months26/9 CC binocular6/9 CC binocularSmall angle esotropia, ocular apraxia, nystagmus
Normal fundoscopy. Absent pVEP, normal fVEP, normal ERG
Global neurodevelopmental delay
Renal failure on peritoneal dialysis since aged 3
3MMAM15 months26/12 CC binocular6/12 CC binocularNormal fundoscopyNeonatal onset
Colitis and dermatitis
4PAM22 months86/6
Normal fundoscopyNeonatal onset
Autistic disorder
5PAMNA12NANAAlternating 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.