Case
SR307
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR307
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 18 years
Fundus Photography - Right - 20/30 -2
Exemplar
Fundus Photography - Left - 20/40 -2
Exemplar
Visit at age: 20 years
Goldmann Visual Field - Right - 20/60 -1
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Goldmann Visual Field - Left - 20/50 +1
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Optical Coherence Tomography - Right - 20/60 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/60 -1
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Infrared Fundus Photograph - Left - 20/50 +1
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Visit at age: 21 years
Goldmann Visual Field - Right - 20/50 -2
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Goldmann Visual Field - Left - 20/40
Exemplar
Optical Coherence Tomography - Right - 20/50 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 -2
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Infrared Fundus Photograph - Left - 20/40
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Visit at age: 22 years
Goldmann Visual Field - Right - 20/63 -2
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Goldmann Visual Field - Left - 20/50 -2
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Optical Coherence Tomography - Right - 20/63 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63 -2
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Infrared Fundus Photograph - Left - 20/50 -2
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Blue Autofluorescence - Right - 20/63 -2
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Blue Autofluorescence - Left - 20/50 -2
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Visit at age: 23 years
Fundus Photography - Right - 20/125 -1
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Fundus Photography - Left - 20/125
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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
Optical Coherence Tomography - Left - 20/125
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -1
Exemplar
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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Visit at age: 24 years
Goldmann Visual Field - Right - 20/125 -1
Exemplar
Goldmann Visual Field - Left - 20/125 -1
Exemplar
Optical Coherence Tomography - Right - 20/125 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -1
Exemplar
Infrared Fundus Photograph - Left - 20/125 -1
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Blue Autofluorescence - Left - 20/125 -1
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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 | Gly1961Glu GGA>GAA | Glu1122Lys GAG>AAG | AR |
Disease:
Gene:
Allele 1:
Gly1961Glu GGA>GAA
Allele 2:
Glu1122Lys GAG>AAG
Inheritance:
AR