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Relatively enhanced S cone function in the Goldmann-Favre syndrome
S G Jacobson1, A J Román, M I Román
1Department of Ophthalmology, University of Miami School of Medicine, Bascom Palmer Eye Institute, Florida 33101.
American Journal of Ophthalmology
|April 15, 1991
Summary
Goldmann-Favre syndrome, a rare retinal degeneration, shows distinct S cone (blue) and rod dysfunction. This pattern resembles enhanced S cone syndrome, suggesting a shared retinal dysfunction mechanism.
Area of Science:
- Ophthalmology
- Genetics
- Neuroscience
Background:
- Goldmann-Favre syndrome is an autosomal recessive vitreoretinal degeneration.
- Understanding its specific cone and rod dysfunction is crucial for diagnosis and potential treatments.
Purpose of the Study:
- To investigate the electrophysiologic and psychophysical function of rod, midspectral, and S (blue) cones in patients with Goldmann-Favre syndrome.
- To compare the findings with other retinal degenerations, particularly enhanced S cone syndrome.
Main Methods:
- Electrophysiologic tests (spectral electroretinography) and psychophysical tests (dark-adapted perimetry, S cone perimetry) were used.
- Four patients with Goldmann-Favre syndrome were studied.
Main Results:
- Spectral electroretinography showed a predominant signal from S cones.
- Patients exhibited severely reduced rod sensitivities and subnormal midspectral cone sensitivities.
- S cone function was normal or subnormal, with relatively higher sensitivity to S cones compared to midspectral cones.
Conclusions:
- Goldmann-Favre syndrome presents with a unique pattern of cone and rod dysfunction.
- This pattern is similar to enhanced S cone syndrome, indicating a potential link between these conditions.
- The findings suggest a common underlying retinal dysfunction mechanism in both syndromes.