Case
SR1859
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR1859
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 16 years
Fundus Photography - Right - 10/125 -1
Exemplar
Fundus Photography - Left - 10/125 -1
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Fundus Montage - Right - 10/125 -1
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Fundus Montage - Left - 10/125 -1
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Goldmann Visual Field - Right - 10/125 -1
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Goldmann Visual Field - Left - 10/125 -1
Exemplar
Optical Coherence Tomography - Right - 10/125 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/125 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/125 -1
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Infrared Fundus Photograph - Left - 10/125 -1
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Blue Autofluorescence - Right - 10/125 -1
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Blue Autofluorescence - Left - 10/125 -1
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Visit at age: 17 years
Goldmann Visual Field - Right - 10/125 -2 sc
Exemplar
Goldmann Visual Field - Left - 10/125 -2 sc
Exemplar
Optical Coherence Tomography - Right - 10/125 -2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/125 -2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/125 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 10/125 -2 sc
Exemplar
Blue Autofluorescence - Right - 10/125 -2 sc
Exemplar
Blue Autofluorescence - Left - 10/125 -2 sc
Exemplar
Visit at age: 18 years
Goldmann Visual Field - Right - 10/160 -2 sc
Exemplar
Goldmann Visual Field - Left - 10/160 sc
Exemplar
Optical Coherence Tomography - Right - 10/160 -2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/160 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/160 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 10/160 sc
Exemplar
Blue Autofluorescence - Right - 10/160 -2 sc
Exemplar
Blue Autofluorescence - Left - 10/160 sc
Exemplar
Visit at age: 20 years
Optical Coherence Tomography - Right - 10/160 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/160 +1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/160 sc
Exemplar
Infrared Fundus Photograph - Left - 10/160 +1 sc
Exemplar
Visit at age: 22 years
Goldmann Visual Field - Right - 10/200 sc
Exemplar
Goldmann Visual Field - Left - 10/200 +2 sc
Exemplar
Optical Coherence Tomography - Right - 10/200 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/200 +2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/200 sc
Exemplar
Infrared Fundus Photograph - Left - 10/200 +2 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Asp507Tyr GAT>TAT | IVS40+5 G>A | AR |
Disease:
Gene:
Allele 1:
Asp507Tyr GAT>TAT
Allele 2:
IVS40+5 G>A
Inheritance:
AR