Case
SR274
Student Mode
Posterior Column Ataxia with Retinitis Pigmentosa (IB7a)
Female
Female
Hidden
SR274
Student Mode
Posterior Column Ataxia with Retinitis Pigmentosa (IB7a)
Female
Female
Visit at age: 29 years
Fundus Photography - Right - 10/140 sc
Exemplar
Fundus Photography - Left - 10/180 sc
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Fundus Montage - Right - 10/140 sc
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Fundus Montage - Left - 10/180 sc
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Goldmann Visual Field - Right - 10/140 sc
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Goldmann Visual Field - Left - 10/180 sc
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Optical Coherence Tomography - Right - 10/140 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 10/180 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 10/140 sc
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Infrared Fundus Photograph - Left - 10/180 sc
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Visit at age: 34 years
Goldmann Visual Field - Right - 20/400 sc
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Goldmann Visual Field - Left - 20/300 sc
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Optical Coherence Tomography - Right - 20/400 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/300 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/400 sc
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Infrared Fundus Photograph - Left - 20/300 sc
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Visit at age: 36 years
Goldmann Visual Field - Right - 20/300 sc
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Goldmann Visual Field - Left - 20/300 sc
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Optical Coherence Tomography - Right - 20/300 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/300 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/300 sc
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Infrared Fundus Photograph - Left - 20/300 sc
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Visit at age: 39 years
Fundus Photography - Right - 20/250 sc
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Fundus Photography - Left - 20/200 sc
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Goldmann Visual Field - Right - 20/250 sc
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Goldmann Visual Field - Left - 20/200 sc
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Optical Coherence Tomography - Right - 20/250 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/250 sc
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Infrared Fundus Photograph - Left - 20/200 sc
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Visit at age: 41 years
Goldmann Visual Field - Right - 10/125
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Goldmann Visual Field - Left - 10/125
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Optical Coherence Tomography - Right - 10/125
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/125
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OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/125
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Infrared Fundus Photograph - Left - 10/125
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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 | Asn121Asp AAC>GAC | Asn121Asp AAC>GAC | AR |
Gene:
Allele 1:
Asn121Asp AAC>GAC
Allele 2:
Asn121Asp AAC>GAC
Inheritance:
AR