Goldmann-Favre/Enhanced S Cone Syndrome, 30 years mysdiagnosed as gyrate atrophy

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.