Case
SR2289
Student Mode
Pseudoxanthoma Elasticum (IID2)
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Male
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SR2289
Student Mode
Pseudoxanthoma Elasticum (IID2)
Male
Male
Visit at age: 44 years
Fundus Photography - Right - 20/40 -2
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Fundus Photography - Left - 20/63
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Fundus Montage - Right - 20/40 -2
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Fundus Montage - Left - 20/63
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Goldmann Visual Field - Right - 20/40 -2
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Goldmann Visual Field - Left - 20/63
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Optical Coherence Tomography - Right - 20/40 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -2
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Infrared Fundus Photograph - Left - 20/63
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Fluorescein Angiography - Right - 20/40 -2
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Fluorescein Angiography - Left - 20/63
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Visit at age: 44 years (Visit 2)
Optical Coherence Tomography - Right - 20/50 +2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 +2
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Infrared Fundus Photograph - Left - 20/80 +1
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Visit at age: 44 years (Visit 3)
Fundus Photography - Right - 20/40 -2
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Fundus Photography - Left - 20/70 -2
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Optical Coherence Tomography - Right - 20/40 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/70 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -2
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Infrared Fundus Photograph - Left - 20/70 -2
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Fluorescein Angiography - Right - 20/40 -2
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Fluorescein Angiography - Left - 20/70 -2
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Visit at age: 44 years (Visit 4)
Optical Coherence Tomography - Right - 20/60 +2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/60 +2
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Infrared Fundus Photograph - Left - 20/125
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Visit at age: 44 years (Visit 5)
Optical Coherence Tomography - Right - 20/50 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 -2
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Infrared Fundus Photograph - Left - 20/125
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Visit at age: 44 years (Visit 6)
Optical Coherence Tomography - Right - 20/60 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/60 -2
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Infrared Fundus Photograph - Left - 20/125
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Visit at age: 44 years (Visit 7)
Optical Coherence Tomography - Right - 20/60
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/60
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Infrared Fundus Photograph - Left - 20/125
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Visit at age: 44 years (Visit 8)
Fundus Photography - Right - 20/60
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Fundus Photography - Left - 20/100
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Optical Coherence Tomography - Right - 20/60
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/60
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Infrared Fundus Photograph - Left - 20/100
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Visit at age: 49 years
Fundus Photography - Right - 20/125 -1
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Fundus Photography - Left - 20/100 -1
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Optical Coherence Tomography - Right - 20/125 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -1
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Infrared Fundus Photograph - Left - 20/100 -1
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Visit at age: 50 years
Optical Coherence Tomography - Right - 20/125 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 sc
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Infrared Fundus Photograph - Left - 20/200 sc
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Visit at age: 51 years
Optical Coherence Tomography - Right - 20/125
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/80
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125
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Infrared Fundus Photograph - Left - 20/80
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Visit at age: 52 years
Optical Coherence Tomography - Right - 20/80 -1 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/150 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/80 -1 sc
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Infrared Fundus Photograph - Left - 20/150 sc
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Pseudoxanthoma Elasticum | ABCC6 | Arg1141Stop CGA>TGA | Deletion Exon 23-29 | AR |
Disease:
Gene:
Allele 1:
Arg1141Stop CGA>TGA
Allele 2:
Deletion Exon 23-29
Inheritance:
AR