Case
SR437
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR437
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 32 years
Fundus Photography - Right - 20/200 -2
Exemplar
Fundus Photography - Left - 20/200
Exemplar
Fundus Montage - Right - 20/200 -2
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Fundus Montage - Left - 20/200
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Goldmann Visual Field - Right - 20/200 -2
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Goldmann Visual Field - Left - 20/200
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Optical Coherence Tomography - Right - 20/200 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 -2
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Infrared Fundus Photograph - Left - 20/200
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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 |
Arg681Stop CGA>TGA |
Arg1860Trp CGG>TGG |
AR |
Allele 1:
Arg681Stop CGA>TGA
Allele 2:
Arg1860Trp CGG>TGG
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
Clear Diagnosis