Case
SR381
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR381
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 29 years
Fundus Photography - Right - 20/100 +1
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Optical Coherence Tomography - Right - 20/100 +1
Exemplar / OCT Stack
OCT Stack
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OCT Stack
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Visit at age: 29 years (Visit 2)
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Visit at age: 30 years
Goldmann Visual Field - Right - 20/80 -1
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Optical Coherence Tomography - Right - 20/80 -1
Exemplar / OCT Stack
OCT Stack
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Exemplar / OCT Stack
OCT Stack
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Visit at age: 31 years
Goldmann Visual Field - Right - 20/100
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Goldmann Visual Field - Left - 20/100 -1
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Optical Coherence Tomography - Right - 20/100
Exemplar / OCT Stack
OCT Stack
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Exemplar / OCT Stack
OCT Stack
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Visit at age: 32 years
Goldmann Visual Field - Right - 20/100
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Goldmann Visual Field - Left - 20/125
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Visit at age: 33 years
Optical Coherence Tomography - Right - 20/80 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125
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OCT Stack
Infrared Fundus Photograph - Right - 20/80 -1
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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 | Gln1513Arg CAG>CGG | Arg2107His CGC>CAC | AR |
Disease:
Gene:
Allele 1:
Gln1513Arg CAG>CGG
Allele 2:
Arg2107His CGC>CAC
Inheritance:
AR