Case
SR452
Student Mode
Congenital Stationary Synaptic Dysfunction (IA2g)
Female
Female
Hidden
SR452
Student Mode
Congenital Stationary Synaptic Dysfunction (IA2g)
Female
Female
Visit at age: 33 years
Fundus Photography - Right - 20/200
Exemplar
Fundus Photography - Left - 20/200
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Fundus Montage - Right - 20/200
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Fundus Montage - Left - 20/200
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Goldmann Visual Field - Right - 20/200
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Goldmann Visual Field - Left - 20/200
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Optical Coherence Tomography - Right - 20/200
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200
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Infrared Fundus Photograph - Left - 20/200
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Visit at age: 35 years
Goldmann Visual Field - Right - 20/160 -1
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Goldmann Visual Field - Left - 20/160 -1
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Optical Coherence Tomography - Right - 20/160 -1
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/160 -1
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/160 -1
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Infrared Fundus Photograph - Left - 20/160 -1
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ERG - Right - 20/160 -1
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ERG - Left - 20/160 -1
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Visit at age: 37 years
Goldmann Visual Field - Right - 20/160 -1
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Goldmann Visual Field - Left - 20/160 -1
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Optical Coherence Tomography - Right - 20/160 -1
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/160 -1
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/160 -1
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Infrared Fundus Photograph - Left - 20/160 -1
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Visit at age: 39 years
Goldmann Visual Field - Right - 20/200
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Goldmann Visual Field - Left - 20/200
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Optical Coherence Tomography - Right - 20/200
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200
Exemplar
Infrared Fundus Photograph - Left - 20/200
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Visit at age: 41 years
Goldmann Visual Field - Right - 20/200
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Goldmann Visual Field - Left - 20/200
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Optical Coherence Tomography - Right - 20/200
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200
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Infrared Fundus Photograph - Left - 20/200
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Congenital Stationary Synaptic Dysfunction | CABP4 | Arg49Stop CGA>TGA | IVS1+1 G>T | AR |
Gene:
Allele 1:
Arg49Stop CGA>TGA
Allele 2:
IVS1+1 G>T
Inheritance:
AR