Transient visual loss in ornithine transcarbamoylase deficiency

Abstract

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.