Case
SR1587
Student Mode
AD Stargardt Disease (IIF)
Female
Female
Hidden
SR1587
Student Mode
AD Stargardt Disease (IIF)
Female
Female
Visit at age: 39 years
Fundus Photography - Right - 20/100
Exemplar
Fundus Photography - Left - 20/80 -1
Exemplar
Fundus Montage - Right - 20/100
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Fundus Montage - Left - 20/80 -1
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Goldmann Visual Field - Right - 20/100
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Goldmann Visual Field - Left - 20/80 -1
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Optical Coherence Tomography - Right - 20/100
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100
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Infrared Fundus Photograph - Left - 20/80 -1
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Blue Autofluorescence - Right - 20/100
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Blue Autofluorescence - Left - 20/80 -1
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Visit at age: 40 years
Goldmann Visual Field - Right - 20/100 -2
Exemplar
Goldmann Visual Field - Left - 20/80 +1
Exemplar
Optical Coherence Tomography - Right - 20/100 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 -2
Exemplar
Infrared Fundus Photograph - Left - 20/80 +1
Exemplar
Blue Autofluorescence - Right - 20/100 -2
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Blue Autofluorescence - Left - 20/80 +1
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Visit at age: 41 years
Goldmann Visual Field - Right - 20/125 -2
Exemplar
Goldmann Visual Field - Left - 20/100 -1
Exemplar
Optical Coherence Tomography - Right - 20/125 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -2
Exemplar
Infrared Fundus Photograph - Left - 20/100 -1
Exemplar
Visit at age: 44 years
Goldmann Visual Field - Right - 20/100 -2
Exemplar
Goldmann Visual Field - Left - 20/80 -2
Exemplar
Optical Coherence Tomography - Right - 20/100 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 -2
Exemplar
Infrared Fundus Photograph - Left - 20/80 -2
Exemplar
Visit at age: 45 years
Fundus Photography - Right - 20/100
Exemplar
Fundus Photography - Left - 20/80 -2
Exemplar
Optical Coherence Tomography - Right - 20/100
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100
Exemplar
Infrared Fundus Photograph - Left - 20/80 -2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Stargardt Disease | ELOVL4 | Leu263 del5tttCTTAA | AD |