FUNDUS FINDINGS IN A PATIENT WITH α-METHLYACYL-COA RACEMASE DEFICIENCY

To describe the ocular findings in a patient with α-methylacyl-CoA racemase deficiency.

Case report.

A 45-year-old white man presented with seizures, hemiparesis, and altered mental status. As a part of an extensive investigation, an ophthalmic evaluation was performed. Funduscopic examination of both eyes showed a bull's-eye pattern pigmentary maculopathy. Fluorescein angiography demonstrated a prominent choroidal circulation without dye leakage. Optical coherence tomography showed a significant thinning of the macula with moderate nerve fiber layer loss. Serum pristanic levels were significantly elevated, and α-methylacyl-CoA racemase deficiency was confirmed by urine and bile analysis. The patient's clinical condition improved after plasma exchange and dietary restriction of fatty acids.

α-Methylacyl-CoA racemase deficiency is a rare peroxisomal enzyme disorder previously described in only six patients, two of whom had pigmentary retinopathies. This article describes the third patient with retinopathy and the first with published fundus findings.