Abstract
PURPOSE: Case report of a Goldmann-Favre/Enhanced S Cone syndrome (GFS/ESCS) misdiagnosed for 30 years. OBSERVATIONS: Clinical case, the patient had been experiencing with poor nocturnal visual acuity since childhood. The fundus examination showed extensive areas of peripheral chorioretinal atrophy with posterior demarcation borders, and a clinical diagnosis of gyrate atrophy was established, although normal levels of ornithine should have made this diagnosis doubtful. 30 years later it was reassessed with electrophysiologic and genetic studies and diagnosed as Goldman-Favre/Enhanced S Cone Syndrome (GFS/ESCS). CONCLUSIONS AND IMPORTANCE: High phenotypic variability of GFS/ESCS makes it difficult to distinguish clinically from diseases such as retinitis pigmentosa, congenital retinoschisis, and gyrate atrophy. Electrophysiology and genetic studies aid in diagnosis. GFS/ESCS is a clinical diagnosis and should be suspected before molecular test. We present a novel mutation for this disease.