Table 3

Clinical features of reported cases of optic atrophy in methylmalonic and propionic acidemia

Case no.OAGenderAgeVisual acuity REVisual acuity LEOphthalmic findingsClinical presentation (acute/insidious)Systemic involvement (available details)
Williams et al
 1MMAM1620/30020/150Bilateral temporal ONP
OCT temporal thinning of papillomacular bundle
Ceco-central scotomas
Sequential bilateral acute loss of vision with recent metabolic decompensation.
No response to CoQ10
Neonatal presentation
Well controlled
Renal failure 2nd decade life
 2MMAM2120/20020/200Bilateral temporal ONP
Central scotomas
Acute–bilateral loss of vision over 1 monthDevelopmental delay+
Wheelchair bound, basal ganglia anomalies in imaging
 3PAF2020/400CFBilateral optic atrophy
Subacute with progressive decline over a 4-month periodBilateral hearing loss
Developmental delay+
Low B1 B6 levels
Pinar-Sueiro et al
 4MMAF15 6/386/9.5Mild dyschromatopsia
Centro-cecal and diffuse scotoma
Delayed VEP
Initially normal ophthalmoscopy and OCT
Fluctuating vision previous months, then rapidly progressive bilateral asymmetric ON, partially reversed with CoQ10 and E vitamin Neonatal presentation
Arias et al
 5PAM131/1201/120Bilateral optic atrophy
Severe concentric scotomas (kinetic perimetry)
Undetermined bilateral visual lossDiagnosis infancy (4 months)
Developmental delay ++
Poor control
 6PAF1820/80020/800 Bilateral optic atrophyProgressive bilateral visual lossDiagnosis infancy (11 months)
Poor control
Developmental delay +
Ianchulev et al
 7PAM2Fix and follow lightFix and follow lightBilateral asymmetric ONPUndetermined (detected on screening)Developmental delay
 8PAM9LP Fix and follow toyMorning glory RE and left ONPUndetermined (detected on screening)Hypotonia
 9PAM10 20/200 20/200 Severe bilateral ONPUndetermined (detected on screening)None
Traber et al
 10MMAF23CFCFCentro-cecal scotomas
Normal fundoscopy
VEP prolonged latency in BE
Acute rapid onset of profound bilateral visual loss, with further deterioration at 6 months
Optic enhancement MRI
No response to CoQ10 and vitamin E
Neonatal presentation
Mild developmental delay
Renal impairment
Impaired growth
Hyperintense in T2 and enhancing MRI lesions
Sensorineural hearing loss
Noval et al
 11PAM2420/160CFBilateral temporal ONP
Selective atrophy of the temporal quadrant on OCT
Bilateral visual loss after metabolic decompensation triggered by elective surgeryNeonatal presentation
Mild developmental delay
  • BE, both eyes; CF, counting fingers; CoQ10, coenzyme Q10; F, female; LE, left eye; LP, light perception; M, male; MMA, methylmalonic acidemia; OCT, optical coherence tomography; ON, optic neuropathy; ONP, optic nerve pallor; PA, propionic acidemia; RE, right eye; RNFL, retinal nerve fibre layer; VEP, visual evoked potentials.