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

Aubhugn T Labiano; Milagros H Arroyo

doi:10.3205/oc000131

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

GMS Ophthalmol Cases. 2020 Feb 27:10:Doc04. doi: 10.3205/oc000131. eCollection 2020.

Authors

Aubhugn T Labiano¹, Milagros H Arroyo¹

Affiliation

¹ Department of Ophthalmology and Visual Sciences, Sentro Oftalmologico Jose Rizal, University of the Philippines Manila - Philippine General Hospital, Manila, Philippines.

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.

Keywords: chorioretinal atrophy; gyrate atrophy; ornithine; taurine.

Publication types

Case Reports