Relatively enhanced S cone function in the Goldmann-Favre syndrome.
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.
Jacobson
S G
SG
Department of Ophthalmology, University of Miami School of Medicine, Bascom Palmer Eye Institute, Florida 33101.
Román
A J
AJ
Román
M I
MI
Gass
J D
JD
Parker
J A
JA
D000328:Adult; D015350:Contrast Sensitivity; D003623:Dark Adaptation; D004596:Electroretinography; D005128:Eye Diseases / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D010786:Photoreceptor Cells / Q000503:physiopathology*; D011601:Psychophysics; D012162:Retinal Degeneration / Q000235:genetics / Q000503:physiopathology*; D013577:Syndrome; D058609:Visual Field Tests; D014822:Vitreous Body / Q000503:physiopathology*