Case
SR96
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
Hidden
SR96
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
Visit at age: 62 years
Fundus Photography - Right - 3/120
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Fundus Photography - Left - 20/63 +2
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Fundus Montage - Right - 3/120
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Fundus Montage - Left - 20/63 +2
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Goldmann Visual Field - Right - 3/120
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Goldmann Visual Field - Left - 20/63 +2
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Optical Coherence Tomography - Right - 3/120
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63 +2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 3/120
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Infrared Fundus Photograph - Left - 20/63 +2
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Visit at age: 62 years (Visit 2)
Optical Coherence Tomography - Right - 20/250
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OCT Stack
Optical Coherence Tomography - Left - 20/50 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/250
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Infrared Fundus Photograph - Left - 20/50 -2
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Visit at age: 63 years
Optical Coherence Tomography - Right - <5/200
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/32 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - <5/200
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Infrared Fundus Photograph - Left - 10/32 -2
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Visit at age: 64 years
Optical Coherence Tomography - Right - 10/100
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/100
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Infrared Fundus Photograph - Left - 20/50
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Visit at age: 64 years (Visit 2)
Goldmann Visual Field - Right - Hand Motion 2'
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Goldmann Visual Field - Left - 20/80 +1
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Optical Coherence Tomography - Right - Hand Motion 2'
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Hand Motion 2'
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Infrared Fundus Photograph - Left - 20/80 +1
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Visit at age: 66 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
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Infrared Fundus Photograph - Left - 20/80
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Visit at age: 67 years
Optical Coherence Tomography - Right - Hand Motion 1'
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/63 -2
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - Hand Motion 1'
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Infrared Fundus Photograph - Left - 20/63 -2
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Visit at age: 68 years
Optical Coherence Tomography - Right - Hand Motion 1'
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Hand Motion 1'
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Infrared Fundus Photograph - Left - 20/100
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Visit at age: 71 years
Optical Coherence Tomography - Right - Hand Motion 1' sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/125
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Hand Motion 1' sc
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Infrared Fundus Photograph - Left - 10/125
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 1 Usher Syndrome | USH1C | Thr78 ins1aC | Thr78 ins1aC | AR |
Disease:
Gene:
Allele 1:
Thr78 ins1aC
Allele 2:
Thr78 ins1aC
Inheritance:
AR