Case
SR1811
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR1811
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 18 years
Fundus Photography - Right - 20/125 +1
Exemplar
Fundus Photography - Left - 20/125
Exemplar
Fundus Montage - Right - 20/125 +1
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Fundus Montage - Left - 20/125
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Goldmann Visual Field - Right - 20/125 +1
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Goldmann Visual Field - Left - 20/125
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Optical Coherence Tomography - Right - 20/125 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 +1
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Infrared Fundus Photograph - Left - 20/125
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Blue Autofluorescence - Right - 20/125 +1
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Blue Autofluorescence - Left - 20/125
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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 | Arg1108Cys CGC>TGC | Val2114Val GTG>GTA | AR |
Disease:
Gene:
Allele 1:
Arg1108Cys CGC>TGC
Allele 2:
Val2114Val GTG>GTA
Inheritance:
AR