Case
SR583
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR583
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 15 years
Fundus Photography - Right - 20/200 sc
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Fundus Photography - Left - 20/200 sc
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Visit at age: 26 years
Fundus Photography - Right - 20/300 sc
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Fundus Photography - Left - 20/300 sc
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Visit at age: 29 years
Fundus Photography - Right - 20/200 sc
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Fundus Photography - Left - 20/200 sc
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Visit at age: 30 years
Fundus Photography - Right - 20/200 -1 sc
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Fundus Photography - Left - 20/200 sc
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Visit at age: 38 years
Fundus Photography - Right - 20/250 sc
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Fundus Photography - Left - 20/250 sc
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Goldmann Visual Field - Right - 20/250 sc
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Goldmann Visual Field - Left - 20/250 sc
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ERG - Right - 20/250 sc
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ERG - Left - 20/250 sc
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Visit at age: 39 years
Fundus Photography - Right - 20/250 sc
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Fundus Photography - Left - 20/250 sc
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Visit at age: 40 years
Goldmann Visual Field - Right - 20/250 sc
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Goldmann Visual Field - Left - 20/250 sc
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Visit at age: 41 years
Goldmann Visual Field - Right - 20/250 sc
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Goldmann Visual Field - Left - 20/250 sc
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Visit at age: 42 years
Fundus Photography - Right - 20/250 sc
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Fundus Photography - Left - 20/250 sc
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Fundus Montage - Right - 20/250 sc
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Fundus Montage - Left - 20/250 sc
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Visit at age: 45 years
Goldmann Visual Field - Right - 20/300 sc
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Goldmann Visual Field - Left - 20/400 sc
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Visit at age: 46 years
Goldmann Visual Field - Right - 20/250 sc
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Goldmann Visual Field - Left - 20/250 sc
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Visit at age: 48 years
Goldmann Visual Field - Right - 20/250 sc
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Goldmann Visual Field - Left - 20/250 sc
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Visit at age: 49 years
Goldmann Visual Field - Right - 20/200 sc
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Visit at age: 50 years
Goldmann Visual Field - Right - 20/300 sc
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Goldmann Visual Field - Left - 20/400 sc
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Visit at age: 51 years
Goldmann Visual Field - Right - 20/200 sc
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Goldmann Visual Field - Left - 20/300 sc
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Optical Coherence Tomography - Right - 20/200 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/300 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 sc
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Infrared Fundus Photograph - Left - 20/300 sc
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Visit at age: 52 years
Goldmann Visual Field - Right - 20/200 sc
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Goldmann Visual Field - Left - 20/300 sc
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Visit at age: 52 years (Visit 2)
Optical Coherence Tomography - Right - 20/200 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/300 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 sc
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Infrared Fundus Photograph - Left - 20/300 sc
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Visit at age: 53 years
Goldmann Visual Field - Right - 20/250 sc
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Goldmann Visual Field - Left - 20/300 sc
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Optical Coherence Tomography - Right - 20/250 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/300 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/250 sc
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Infrared Fundus Photograph - Left - 20/300 sc
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Visit at age: 55 years
Goldmann Visual Field - Right - 20/250 sc
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Goldmann Visual Field - Left - 20/300 sc
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Optical Coherence Tomography - Right - 20/250 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/300 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/250 sc
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Infrared Fundus Photograph - Left - 20/300 sc
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Blue Autofluorescence - Right - 20/250 sc
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Blue Autofluorescence - Left - 20/300 sc
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Visit at age: 57 years
Goldmann Visual Field - Right - 20/200 sc
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Goldmann Visual Field - Left - 20/250 sc
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Optical Coherence Tomography - Right - 20/200 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/250 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 sc
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Infrared Fundus Photograph - Left - 20/250 sc
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Blue Autofluorescence - Right - 20/200 sc
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Blue Autofluorescence - Left - 20/250 sc
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Visit at age: 59 years
Goldmann Visual Field - Right - 20/150 sc
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Goldmann Visual Field - Left - 20/300 sc
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Optical Coherence Tomography - Right - 20/150 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/300 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/150 sc
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Infrared Fundus Photograph - Left - 20/300 sc
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Blue Autofluorescence - Right - 20/150 sc
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Blue Autofluorescence - Left - 20/300 sc
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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 |
Ala1038Val GCC>GTC / Ala854Thr GCT>ACT |
Arg1108Cys CGC>TGC |
AR |
Allele 1:
Ala1038Val GCC>GTC / Ala854Thr GCT>ACT
Allele 2:
Arg1108Cys CGC>TGC
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
Clear Diagnosis