Late onset optic neuropathy in methylmalonic and propionic acidemia.
OBJECTIVE
To describe 3 cases of late-onset bilateral optic neuropathy with visual dysfunction in patients with organic acidemia.


METHODS
Retrospective case series.


METHODS
A total of 3 subjects, a 16-year-old male with methylmalonic acidemia (MMA), a 21-year-old male with MMA, and a 20-year-old female with propionic acidemia (PA), are included in this series. Comparison of the patients' clinical course, ophthalmologic exam, and testing are discussed. The outcome measures include visual acuity (VA), fundus appearance, visual fields, brain imaging, and genetic testing.


RESULTS
All 3 subjects had late-onset severe bilateral VA loss with bilateral optic nerve pallor, central or cecocentral scotomas on visual field testing, and negative diagnostic workups for other causes of bilateral optic neuropathy.


CONCLUSIONS
Patients with organic acidemia may develop late-onset bilateral optic neuropathy with visual dysfunction despite lifelong propiogenic amino acid restriction and dietary supplementation.
Williams
Zoë R
ZR
Department of Ophthalmology, University of Rochester, Rochester, New York, USA.
Hurley
P Emmett
PE
Altiparmak
Ugur E
UE
Feldon
Steven E
SE
Arnold
Georgianne L
GL
Eggenberger
Eric
E
Mejico
Luis J
LJ
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000150:complications* / Q000178:diet therapy; D019587:Dietary Supplements; D005260:Female; D006801:Humans; D008297:Male; D008764:Methylmalonic Acid / Q000097:blood*; D009901:Optic Nerve Diseases / Q000097:blood / Q000209:etiology*; D011422:Propionates / Q000097:blood*; D012189:Retrospective Studies; D012607:Scotoma / Q000097:blood / Q000209:etiology*; D014792:Visual Acuity; D014794:Visual Fields; D055815:Young Adult
D011422:Propionates; D008764:Methylmalonic Acid; C029658:propionic acid