Relatively enhanced S cone function in the Goldmann-Favre syndrome

Abstract

Using electrophysiologic and psychophysical tests that measure rod, midspectral, and S (blue) cone function, we studied four patients with the Goldmann-Favre syndrome, an autosomal recessive vitreoretinal degeneration. With spectral electroretinography, the predominant signal was from the S cones. With dark-adapted perimetry, all patients had severely reduced rod sensitivities and subnormal midspectral cone sensitivities. With S cone perimetry, the patients had normal or subnormal S cone function. Sensitivity differences between S and midspectral cones were significantly different from normal; there was relatively higher sensitivity to S cones compared to midspectral cones throughout the visual field. This relationship of dysfunctional cone mechanisms in the Goldmann-Favre syndrome is similar to that in the enhanced S cone syndrome, a recently identified retinal degeneration with S cone hypersensitivity. The results suggest that the Goldmann-Favre and the enhanced S cone syndromes are linked by a common pattern of retinal dysfunction.