Transient visual loss in ornithine transcarbamoylase deficiency.
We examined a 32-year-old, previously healthy man who developed episodic bilateral visual impairment and confusion. Coincident hyperammonemia led to the diagnosis of ornithine transcarbamoylase deficiency, which was established by enzymatic analysis of a liver biopsy specimen. The available data were insufficient to determine if the metabolic derangement impaired vision at the level of the optic nerves or at the cerebral level.
Snebold
N G
NG
Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston.
Rizzo
J F
JF
Lessell
S
S
Pruett
R C
RC
D000328:Adult; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D013997:Time Factors; D014057:Tomography, X-Ray Computed; D014786:Vision Disorders / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology