Case
SR83
Student Mode
Posterior Column Ataxia with Retinitis Pigmentosa (IB7a)
Male
Male
Hidden
SR83
Student Mode
Posterior Column Ataxia with Retinitis Pigmentosa (IB7a)
Male
Male
Visit at age: 21 years
Fundus Photography - Right - 20/40 sc
Exemplar
Fundus Photography - Left - 20/40 sc
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Fundus Montage - Right - 20/40 sc
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Fundus Montage - Left - 20/40 sc
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Goldmann Visual Field - Right - 20/40 sc
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Goldmann Visual Field - Left - 20/40 sc
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Visit at age: 28 years
Fundus Photography - Right - 20/60 +1 sc
Exemplar
Fundus Photography - Left - 20/50 -1 sc
Exemplar
Fundus Montage - Right - 20/60 +1 sc
Exemplar
Fundus Montage - Left - 20/50 -1 sc
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Goldmann Visual Field - Right - 20/60 +1 sc
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Goldmann Visual Field - Left - 20/50 -1 sc
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Optical Coherence Tomography - Right - 20/60 +1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/60 +1 sc
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Infrared Fundus Photograph - Left - 20/50 -1 sc
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Visit at age: 31 years
Goldmann Visual Field - Right - 20/50 +1
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Goldmann Visual Field - Left - 20/40 +1
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Optical Coherence Tomography - Right - 20/50 +1
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 - 20/50 +1
Exemplar
Infrared Fundus Photograph - Left - 20/40 +1
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Visit at age: 33 years
Fundus Photography - Right - 20/50 -1
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Fundus Photography - Left - 20/50 -2
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Goldmann Visual Field - Right - 20/50 -1
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Goldmann Visual Field - Left - 20/50 -2
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Optical Coherence Tomography - Right - 20/50 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 -1
Exemplar
Infrared Fundus Photograph - Left - 20/50 -2
Exemplar
Visit at age: 36 years
Goldmann Visual Field - Right - 20/50 +1 sc
Exemplar
Goldmann Visual Field - Left - 20/50 +2 sc
Exemplar
Optical Coherence Tomography - Right - 20/50 +1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 +2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 +1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/50 +2 sc
Exemplar
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