Case
SR573
Student Mode
Type 1 Usher Syndrome (IB1a)
Female
Female
Hidden
SR573
Student Mode
Type 1 Usher Syndrome (IB1a)
Female
Female
Visit at age: 15 years
Fundus Photography - Right - 20/30 sc
Exemplar
Fundus Photography - Left - 20/30 sc
Exemplar
Goldmann Visual Field - Right - 20/30 sc
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Goldmann Visual Field - Left - 20/30 sc
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Visit at age: 16 years
Fundus Photography - Right - 20/20 -3 sc
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Fundus Photography - Left - 20/20 sc
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Visit at age: 18 years
Fundus Photography - Right - 20/25 -1 sc
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Fundus Photography - Left - 20/20 -2 sc
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Goldmann Visual Field - Right - 20/25 -1 sc
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Goldmann Visual Field - Left - 20/20 -2 sc
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Visit at age: 20 years
Goldmann Visual Field - Right - 20/30 sc
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Goldmann Visual Field - Left - 20/20 sc
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Visit at age: 37 years
Fundus Photography - Right - 20/25 sc
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Fundus Photography - Left - 20/25 +2 sc
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Fundus Montage - Right - 20/25 sc
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Fundus Montage - Left - 20/25 +2 sc
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Goldmann Visual Field - Right - 20/25 sc
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Goldmann Visual Field - Left - 20/25 +2 sc
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Visit at age: 38 years
Fundus Photography - Right - 20/32 +2 sc
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Fundus Photography - Left - 20/25 -1 sc
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Goldmann Visual Field - Right - 20/32 +2 sc
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Goldmann Visual Field - Left - 20/25 -1 sc
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Optical Coherence Tomography - Right - 20/32 +2 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 +2 sc
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Infrared Fundus Photograph - Left - 20/25 -1 sc
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B-Scan Ultrasonography - Right - 20/32 +2 sc
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Visit at age: 39 years
Goldmann Visual Field - Right - 20/25 -1
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Goldmann Visual Field - Left - 20/25
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Visit at age: 41 years
Goldmann Visual Field - Right - 20/32
Exemplar
Goldmann Visual Field - Left - 20/32
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Optical Coherence Tomography - Right - 20/32
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32
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Infrared Fundus Photograph - Left - 20/32
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Visit at age: 43 years
Goldmann Visual Field - Right - 20/32 sc
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Goldmann Visual Field - Left - 20/32 +1 sc
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Optical Coherence Tomography - Right - 20/32 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 +1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 sc
Exemplar
Infrared Fundus Photograph - Left - 20/32 +1 sc
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Visit at age: 47 years
Goldmann Visual Field - Right - 20/50
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Goldmann Visual Field - Left - 20/32
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Optical Coherence Tomography - Right - 20/50
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50
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Infrared Fundus Photograph - Left - 20/32
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Blue Autofluorescence - Right - 20/50
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Blue Autofluorescence - Left - 20/32
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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 | CDH23 | Glu1435Lys GAG>AAG | Tyr1947Stop TAT>TAG | AR |
Disease:
Gene:
Allele 1:
Glu1435Lys GAG>AAG
Allele 2:
Tyr1947Stop TAT>TAG
Inheritance:
AR