Case
SR160
Student Mode
Posterior Column Ataxia with Retinitis Pigmentosa (IB7a)
Male
Male
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SR160
Student Mode
Posterior Column Ataxia with Retinitis Pigmentosa (IB7a)
Male
Male
Visit at age: 26 years
Fundus Photography - Right - 20/80 +1 sc
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Fundus Photography - Left - 20/63 +1 sc
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Goldmann Visual Field - Right - 20/80 +1 sc
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Goldmann Visual Field - Left - 20/63 +1 sc
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Visit at age: 28 years
Goldmann Visual Field - Right - 20/70 +1
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Goldmann Visual Field - Left - 20/60
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Visit at age: 32 years
Fundus Photography - Right - 20/200 sc
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Fundus Photography - Left - 20/60 -2 sc
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Goldmann Visual Field - Right - 20/200 sc
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Goldmann Visual Field - Left - 20/60 -2 sc
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Visit at age: 34 years
Goldmann Visual Field - Right - 10/140 sc
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Goldmann Visual Field - Left - 20/80 -1
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Optical Coherence Tomography - Right - 10/140 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/140 sc
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Infrared Fundus Photograph - Left - 20/80 -1
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Visit at age: 35 years
Fundus Photography - Right - 20/1000 sc
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Fundus Photography - Left - 20/125 -1 sc
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Fundus Montage - Right - 20/1000 sc
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Fundus Montage - Left - 20/125 -1 sc
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Goldmann Visual Field - Right - 20/1000 sc
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Goldmann Visual Field - Left - 20/125 -1 sc
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Optical Coherence Tomography - Right - 20/1000 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/1000 sc
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Infrared Fundus Photograph - Left - 20/125 -1 sc
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Visit at age: 35 years (Visit 2)
Optical Coherence Tomography - Right - 20/300 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/300 sc
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Infrared Fundus Photograph - Left - 20/125 -1 sc
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Visit at age: 36 years
Optical Coherence Tomography - Left - 20/100 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Left - 20/100 sc
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Visit at age: 36 years (Visit 2)
Fundus Photography - Right - 20/200 -1 sc
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Fundus Photography - Left - 20/125 -1 sc
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Fundus Montage - Right - 20/200 -1 sc
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Fundus Montage - Left - 20/125 -1 sc
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Goldmann Visual Field - Right - 20/200 -1 sc
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Goldmann Visual Field - Left - 20/125 -1 sc
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Optical Coherence Tomography - Right - 20/200 -1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 -1 sc
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Infrared Fundus Photograph - Left - 20/125 -1 sc
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Visit at age: 37 years
Goldmann Visual Field - Right - 20/200 -3 sc
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Goldmann Visual Field - Left - 20/160 sc
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Optical Coherence Tomography - Right - 20/200 -3 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 -3 sc
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Infrared Fundus Photograph - Left - 20/160 sc
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Visit at age: 38 years
Goldmann Visual Field - Left - 10/125 sc
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Optical Coherence Tomography - Right - 10/200 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/125 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/200 sc
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Infrared Fundus Photograph - Left - 10/125 sc
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Visit at age: 39 years
Optical Coherence Tomography - Right - Hand Motion 6"
Exemplar / OCT Stack
Optical Coherence Tomography - Left - Hand Motion 6"
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Hand Motion 6"
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Infrared Fundus Photograph - Left - Hand Motion 6"
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Visit at age: 41 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - Light Perception
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Infrared Fundus Photograph - Left - Light Perception
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Visit at age: 43 years
Optical Coherence Tomography - Right - Light Perception sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception sc
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Infrared Fundus Photograph - Left - Light Perception sc
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Posterior Column Ataxia with Retinitis Pigmentosa | FLVCR1 | Ala283Pro GCT>CCT | IVS9+1 del4tGTAA | AR |
Gene:
Allele 1:
Ala283Pro GCT>CCT
Allele 2:
IVS9+1 del4tGTAA
Inheritance:
AR