Case 423 -- progressive loss of central vision and macular edema

Contributed by Akosua B Domfeh, MBchB, Nicole N. Esposito, MD, David N Finegold, MD
Published on line in April 2005

PATIENT HISTORY:

The patient is a 15-year-old adolescent male with a history of developmental delay who presented at 8 to 10 years of age with loss of peripheral vision and night blindness, at which time he was diagnosed with retinitis pigmentosa. He then developed progressive loss of central vision and macular edema. He was evaluated by an ophthalmologist, subspecialzing in genetics. A diagnostic laboratory test was requested because of the atypical presentation of retinitis pigmentosa.

LABORATORY RESULTS:

Analyte	Result	Normal range
Serum ornithine	80 mmol/dL	<15 mmol/dL

FINAL DIAGNOSIS