Case
SR2578
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR2578
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 58 years
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Visit at age: 58 years (Visit 2)
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Visit at age: 58 years (Visit 3)
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Visit at age: 59 years
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Visit at age: 59 years (Visit 2)
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Visit at age: 59 years (Visit 3)
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Visit at age: 59 years (Visit 4)
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Visit at age: 59 years (Visit 5)
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Visit at age: 59 years (Visit 6)
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Visit at age: 60 years
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OCT Stack
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Visit at age: 60 years (Visit 2)
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Visit at age: 60 years (Visit 3)
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OCT Stack
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Visit at age: 60 years (Visit 4)
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OCT Stack
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Visit at age: 60 years (Visit 5)
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OCT Stack
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Visit at age: 60 years (Visit 6)
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Visit at age: 61 years
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OCT Stack
OCT Stack
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OCT Stack
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Visit at age: 61 years (Visit 2)
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Visit at age: 61 years (Visit 3)
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OCT Stack
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Visit at age: 61 years (Visit 4)
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OCT Stack
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Visit at age: 61 years (Visit 5)
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OCT Stack
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OCT Stack
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Visit at age: 61 years (Visit 6)
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OCT Stack
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Visit at age: 61 years (Visit 7)
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Arg219Thr AGA>ACA | Gly863Ala (G)GA>(G)CA | AR |
Disease:
Gene:
Allele 1:
Arg219Thr AGA>ACA
Allele 2:
Gly863Ala (G)GA>(G)CA
Inheritance:
AR