Case
SR2196
Student Mode
Late Onset Retinal Dystrophy (IIIA3)
Male
Male
Hidden
SR2196
Student Mode
Late Onset Retinal Dystrophy (IIIA3)
Male
Male
Visit at age: 81 years
Fundus Photography - Right - 20/25 -1
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Fundus Photography - Left - 20/80 -1
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Fundus Montage - Right - 20/25 -1
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Fundus Montage - Left - 20/80 -1
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Goldmann Visual Field - Right - 20/25 -1
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Goldmann Visual Field - Left - 20/80 -1
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Optical Coherence Tomography - Right - 20/25 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 -1
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OCT Stack
Infrared Fundus Photograph - Right - 20/25 -1
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Infrared Fundus Photograph - Left - 20/80 -1
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Visit at age: 82 years
Goldmann Visual Field - Right - 20/40 -2
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Goldmann Visual Field - Left - 20/200 -2
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Optical Coherence Tomography - Right - 20/40 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -2
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Infrared Fundus Photograph - Left - 20/200 -2
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Visit at age: 83 years
Goldmann Visual Field - Right - 20/125 -1
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Goldmann Visual Field - Left - 10/400
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Optical Coherence Tomography - Right - 20/125 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/400
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -1
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Infrared Fundus Photograph - Left - 10/400
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Visit at age: 84 years
Goldmann Visual Field - Right - 20/300 +1
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Goldmann Visual Field - Left - 3/200
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Optical Coherence Tomography - Right - 20/300 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 3/200
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/300 +1
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Infrared Fundus Photograph - Left - 3/200
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Visit at age: 85+ (Visit 1)
Goldmann Visual Field - Right - 10/140
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Goldmann Visual Field - Left - 1/200
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Optical Coherence Tomography - Right - 10/140
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 1/200
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/140
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Infrared Fundus Photograph - Left - 1/200
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Visit at age: 85+ (Visit 2)
Optical Coherence Tomography - Right - 10/120
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Hand Motion 1'
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/120
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Infrared Fundus Photograph - Left - Hand Motion 1'
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Late Onset Retinal Dystrophy | C1QTNF5 | Ser163Arg AGC>AGA | AD |
Disease:
Gene:
Allele 1:
Ser163Arg AGC>AGA
Allele 2:
Inheritance:
AD