Case
SR643
Student Mode
Type 2 Usher Syndrome (IB1b)
Female
Female
Hidden
SR643
Student Mode
Type 2 Usher Syndrome (IB1b)
Female
Female
Visit at age: 30 years
Fundus Photography - Right - 20/20 -2
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Fundus Photography - Left - 20/25
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Goldmann Visual Field - Right - 20/20 -2
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Visit at age: 34 years
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Visit at age: 36 years
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Visit at age: 41 years
Goldmann Visual Field - Right - 20/32 +2
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Visit at age: 45 years
Goldmann Visual Field - Right - 20/30 -2
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Visit at age: 50 years
Goldmann Visual Field - Right - 20/40 -1
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Goldmann Visual Field - Left - 20/50
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Visit at age: 51 years
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OCT Stack
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OCT Stack
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Visit at age: 53 years
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Goldmann Visual Field - Right - 20/40 -2
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Goldmann Visual Field - Left - 20/50
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Optical Coherence Tomography - Right - 20/40 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50
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OCT Stack
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Visit at age: 56 years
Fundus Photography - Right - 20/63
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Fundus Photography - Left - 20/50 -2
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Goldmann Visual Field - Right - 20/63
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Goldmann Visual Field - Left - 20/50 -2
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Optical Coherence Tomography - Right - 20/63
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
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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 | USH2A | Glu767 del1tgtG | IVS29+1287 del1gA | AR |
Disease:
Gene:
Allele 1:
Glu767 del1tgtG
Allele 2:
IVS29+1287 del1gA
Inheritance:
AR