Case
SR497
Student Mode
Cohen Syndrome (IB9)
Male
Male
Hidden
SR497
Student Mode
Cohen Syndrome (IB9)
Male
Male
Visit at age: 17 years
Fundus Photography - Right - 20/40
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Fundus Photography - Left - 20/50
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Goldmann Visual Field - Right - 20/40
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Goldmann Visual Field - Left - 20/50
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Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
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Infrared Fundus Photograph - Left - 20/50
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Visit at age: 18 years
Fundus Photography - Right - 20/125 sc
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Fundus Photography - Left - 20/100 sc
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Fundus Montage - Right - 20/125 sc
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Fundus Montage - Left - 20/100 sc
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Goldmann Visual Field - Right - 20/125 sc
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Goldmann Visual Field - Left - 20/100 sc
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Optical Coherence Tomography - Right - 20/125 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 sc
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Infrared Fundus Photograph - Left - 20/100 sc
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Visit at age: 19 years
Goldmann Visual Field - Right - 20/80 sc
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Goldmann Visual Field - Left - 20/100 sc
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Optical Coherence Tomography - Right - 20/80 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80 sc
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Infrared Fundus Photograph - Left - 20/100 sc
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Visit at age: 21 years
Goldmann Visual Field - Right - 10/40 sc
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Goldmann Visual Field - Left - 10/40 sc
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Optical Coherence Tomography - Right - 10/40 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/40 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/40 sc
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Infrared Fundus Photograph - Left - 10/40 sc
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Visit at age: 23 years
Goldmann Visual Field - Right - 10/40 sc
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Goldmann Visual Field - Left - 10/40 sc
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Optical Coherence Tomography - Right - 10/40 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/40 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/40 sc
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Infrared Fundus Photograph - Left - 10/40 sc
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Visit at age: 25 years
Goldmann Visual Field - Right - 10/40 sc
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Goldmann Visual Field - Left - 10/40 sc
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Optical Coherence Tomography - Right - 10/40 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/40 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/40 sc
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Infrared Fundus Photograph - Left - 10/40 sc
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Cohen Syndrome | VPS13B | Gln3453 del1ctgC | Lys1129Arg AAG>AGG | AR |
Disease:
Gene:
Allele 1:
Gln3453 del1ctgC
Allele 2:
Lys1129Arg AAG>AGG
Inheritance:
AR