Clinical features of reported cases of optic atrophy in methylmalonic and propionic acidemia
| Case no. | OA | Gender | Age | Visual acuity RE | Visual acuity LE | Ophthalmic findings | Clinical presentation (acute/insidious) | Systemic involvement (available details) |
|---|---|---|---|---|---|---|---|---|
| Williams et al | ||||||||
| 1 | MMA | M | 16 | 20/300 | 20/150 | Bilateral temporal ONP Dyschromatopsia 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 |
| 2 | MMA | M | 21 | 20/200 | 20/200 | Bilateral temporal ONP Dyschromatopsia Central scotomas | Acute–bilateral loss of vision over 1 month | Developmental delay+ Wheelchair bound, basal ganglia anomalies in imaging |
| 3 | PA | F | 20 | 20/400 | CF | Bilateral optic atrophy Dyschromatopsia | Subacute with progressive decline over a 4-month period | Bilateral hearing loss Developmental delay+ Low B1 B6 levels |
| Pinar-Sueiro et al | ||||||||
| 4 | MMA | F | 15 | 6/38 | 6/9.5 | Mild 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 | ||||||||
| 5 | PA | M | 13 | 1/120 | 1/120 | Bilateral optic atrophy Severe concentric scotomas (kinetic perimetry) | Undetermined bilateral visual loss | Diagnosis infancy (4 months) Developmental delay ++ Seizures Poor control |
| 6 | PA | F | 18 | 20/800 | 20/800 | Bilateral optic atrophy | Progressive bilateral visual loss | Diagnosis infancy (11 months) Poor control Developmental delay + |
| Ianchulev et al | ||||||||
| 7 | PA | M | 2 | Fix and follow light | Fix and follow light | Bilateral asymmetric ONP | Undetermined (detected on screening) | Developmental delay Hypotonia |
| 8 | PA | M | 9 | LP | Fix and follow toy | Morning glory RE and left ONP | Undetermined (detected on screening) | Hypotonia |
| 9 | PA | M | 10 | 20/200 | 20/200 | Severe bilateral ONP | Undetermined (detected on screening) | None |
| Traber et al | ||||||||
| 10 | MMA | F | 23 | CF | CF | Centro-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 | ||||||||
| 11 | PA | M | 24 | 20/160 | CF | Bilateral temporal ONP Selective atrophy of the temporal quadrant on OCT | Bilateral visual loss after metabolic decompensation triggered by elective surgery | Neonatal presentation Cardiomyopathy 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.