Case
SR739
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
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SR739
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Male
Male
Visit at age: 29 years
Fundus Photography - Right - 20/60 +1
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Fundus Photography - Left - 20/60
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Goldmann Visual Field - Right - 20/60 +1
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Goldmann Visual Field - Left - 20/60
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Visit at age: 32 years
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Visit at age: 33 years
Fundus Photography - Right - 20/100 +1
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Visit at age: 33 years (Visit 2)
Goldmann Visual Field - Right - 20/125
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Visit at age: 34 years
Goldmann Visual Field - Right - 20/100
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Visit at age: 35 years
Optical Coherence Tomography - Right - 20/100 +1
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Visit at age: 36 years
Goldmann Visual Field - Right - 20/80
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Goldmann Visual Field - Left - 20/70 +1
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Optical Coherence Tomography - Right - 20/80
Exemplar / OCT Stack
OCT Stack
OCT Stack
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OCT Stack
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Visit at age: 38 years
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Optical Coherence Tomography - Left - 20/70
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OCT Stack
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Visit at age: 41 years
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Goldmann Visual Field - Left - 20/100 +1
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OCT Stack
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OCT Stack
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Visit at age: 42 years
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OCT Stack
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OCT Stack
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Infrared Fundus Photograph - Left - Hand Motion
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Visit at age: 42 years (Visit 2)
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OCT Stack
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OCT Stack
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Visit at age: 42 years (Visit 3)
Optical Coherence Tomography - Right - Hand Motion
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OCT Stack
OCT Stack
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OCT Stack
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Visit at age: 43 years
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OCT Stack
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Visit at age: 43 years (Visit 2)
Optical Coherence Tomography - Right - 20/70 +1 sc
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OCT Stack
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OCT Stack
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Visit at age: 44 years
Goldmann Visual Field - Right - 20/80 +2 sc
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Optical Coherence Tomography - Right - 20/80 +2 sc
Exemplar / OCT Stack
OCT Stack
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OCT Stack
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Visit at age: 46 years
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OCT Stack
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OCT Stack
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Visit at age: 49 years
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Goldmann Visual Field - Left - 20/63 -2
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OCT Stack
OCT Stack
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OCT Stack
OCT Stack
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | FAM161A | Arg437Stop AGA>TGA | Arg437Stop AGA>TGA | AR |
Disease:
Gene:
Allele 1:
Arg437Stop AGA>TGA
Allele 2:
Arg437Stop AGA>TGA
Inheritance:
AR