Case
SR370
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
Hidden
SR370
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
Visit at age: 14 years
Fundus Photography - Right - 20/80
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Fundus Photography - Left - 20/100
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Goldmann Visual Field - Right - 20/80
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Goldmann Visual Field - Left - 20/100
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Optical Coherence Tomography - Right - 20/80
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80
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Infrared Fundus Photograph - Left - 20/100
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Visit at age: 15 years
Goldmann Visual Field - Right - 20/30 -2
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Goldmann Visual Field - Left - 20/60 -2
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Visit at age: 16 years
Goldmann Visual Field - Right - 20/40 +2
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Goldmann Visual Field - Left - 20/30 -2
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Optical Coherence Tomography - Right - 20/40 +2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/30 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 +2
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Infrared Fundus Photograph - Left - 20/30 -2
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Visit at age: 17 years
Goldmann Visual Field - Right - 20/32
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Goldmann Visual Field - Left - 20/32 +1
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Optical Coherence Tomography - Right - 20/32
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32
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Infrared Fundus Photograph - Left - 20/32 +1
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Visit at age: 19 years
Goldmann Visual Field - Right - 20/25
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Goldmann Visual Field - Left - 20/25
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Optical Coherence Tomography - Right - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25
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Infrared Fundus Photograph - Left - 20/25
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Visit at age: 22 years
Goldmann Visual Field - Right - 20/40
Exemplar
Goldmann Visual Field - Left - 20/25
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Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
Exemplar
Infrared Fundus Photograph - Left - 20/25
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Visit at age: 24 years
Goldmann Visual Field - Right - 20/40
Exemplar
Goldmann Visual Field - Left - 20/25
Exemplar
Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
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Infrared Fundus Photograph - Left - 20/25
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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 | USH1G | Leu84Pro CTG>CCG | Leu84Pro CTG>CCG | AR |
Disease:
Gene:
Allele 1:
Leu84Pro CTG>CCG
Allele 2:
Leu84Pro CTG>CCG
Inheritance:
AR