Case
SR85
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
Hidden
SR85
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
Visit at age: 8 years
Fundus Photography - Right - 20/32 -1
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Fundus Photography - Left - 20/32 -1
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Goldmann Visual Field - Right - 20/32 -1
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Goldmann Visual Field - Left - 20/32 -1
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Optical Coherence Tomography - Right - 20/32 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 -1
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Infrared Fundus Photograph - Left - 20/32 -1
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Visit at age: 16 years
Fundus Photography - Right - 20/40
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Fundus Photography - Left - 20/40 -1
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Fundus Montage - Right - 20/40
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Fundus Montage - Left - 20/40 -1
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Goldmann Visual Field - Right - 20/40
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Goldmann Visual Field - Left - 20/40 -1
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Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
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Infrared Fundus Photograph - Left - 20/40 -1
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Blue Autofluorescence - Right - 20/40
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Blue Autofluorescence - Left - 20/40 -1
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Visit at age: 17 years
Goldmann Visual Field - Right - 20/25
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Goldmann Visual Field - Left - 20/25 -2
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Optical Coherence Tomography - Right - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25
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Infrared Fundus Photograph - Left - 20/25 -2
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Blue Autofluorescence - Right - 20/25
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Blue Autofluorescence - Left - 20/25 -2
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Visit at age: 19 years
Optical Coherence Tomography - Right - 20/25 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -1
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Infrared Fundus Photograph - Left - 20/25 -1
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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 | MYO7A | Gln1798Stop CAG>TAG | Ile539 ins1atC | AR |
Disease:
Gene:
Allele 1:
Gln1798Stop CAG>TAG
Allele 2:
Ile539 ins1atC
Inheritance:
AR