Case
SR1187
Student Mode
Type 2 Usher Syndrome (IB1b)
Male
Male
Hidden
SR1187
Student Mode
Type 2 Usher Syndrome (IB1b)
Male
Male
Visit at age: 76 years
Fundus Photography - Right - 1/200 sc
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Fundus Photography - Left - 1/200 sc
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Fundus Montage - Left - 1/200 sc
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Goldmann Visual Field - Right - 1/200 sc
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Goldmann Visual Field - Left - 1/200 sc
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Optical Coherence Tomography - Right - 1/200 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
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Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
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Visit at age: 77 years
Goldmann Visual Field - Right - 1/400 sc
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Goldmann Visual Field - Left - 1/400 sc
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Optical Coherence Tomography - Right - 1/400 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 1/400 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 1/400 sc
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Visit at age: 78 years
Goldmann Visual Field - Right - 2/200 sc
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Goldmann Visual Field - Left - 1/200 sc
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Optical Coherence Tomography - Right - 2/200 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 1/200 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 2/200 sc
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Infrared Fundus Photograph - Left - 1/200 sc
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Visit at age: 81 years
Optical Coherence Tomography - Right - Hand Motion 1' sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Hand Motion 6" sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Hand Motion 1' sc
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Infrared Fundus Photograph - Left - Hand Motion 6" sc
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Visit at age: 83 years
Optical Coherence Tomography - Right - Hand Motion sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Hand Motion sc
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OCT Stack
Infrared Fundus Photograph - Right - Hand Motion sc
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Infrared Fundus Photograph - Left - Hand Motion sc
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 2 Usher Syndrome | ARSG | Arg95Gln CGG>CAG | Ala234 ins1gC | AR |
Disease:
Gene:
Allele 1:
Arg95Gln CGG>CAG
Allele 2:
Ala234 ins1gC
Inheritance:
AR