Gyrate atrophy-like phenotype with normal plasma ornithine and low plasma taurine.

Abstract

We present the case of a 39-year-old male with sectoral chorioretinal atrophy similar to that seen in gyrate atrophy (GA) but with a normal plasma ornithine level. Unlike previously reported cases of GA, he had below-normal plasma taurine concentration. Much remains unknown about the pathophysiologic mechanism underlying gyrate-like chorioretinal atrophy. The concomitant occurrence of GA-like phenotype and hypotaurinemia suggests a possible future avenue for research on this matter.