Case
SR504
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR504
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 14 years
Fundus Photography - Right - 20/125 -2
Exemplar
Fundus Photography - Left - 20/25 +2
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Fundus Montage - Right - 20/125 -2
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Fundus Montage - Left - 20/25 +2
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Goldmann Visual Field - Right - 20/125 -2
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Goldmann Visual Field - Left - 20/25 +2
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Optical Coherence Tomography - Right - 20/125 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 +2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -2
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Infrared Fundus Photograph - Left - 20/25 +2
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Visit at age: 15 years
Goldmann Visual Field - Right - 20/160
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Goldmann Visual Field - Left - 20/32 +1
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Optical Coherence Tomography - Right - 20/160
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160
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Infrared Fundus Photograph - Left - 20/32 +1
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Visit at age: 16 years
Goldmann Visual Field - Right - 20/160 -2
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Goldmann Visual Field - Left - 20/40 -1
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Optical Coherence Tomography - Right - 20/160 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160 -2
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Infrared Fundus Photograph - Left - 20/40 -1
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Visit at age: 17 years
Goldmann Visual Field - Right - 20/160 -1
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Goldmann Visual Field - Left - 20/40
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Visit at age: 18 years
Goldmann Visual Field - Right - 20/160 +2
Exemplar
Goldmann Visual Field - Left - 20/80 -1
Exemplar
Optical Coherence Tomography - Right - 20/160 +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 - 20/160 +2
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Infrared Fundus Photograph - Left - 20/80 -1
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Blue Autofluorescence - Right - 20/160 +2
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Blue Autofluorescence - Left - 20/80 -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 | Asp1613 del1gA | AR |
Disease:
Gene:
Allele 1:
Gly1961Glu GGA>GAA
Allele 2:
Asp1613 del1gA
Inheritance:
AR