Case
SR118
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR118
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Visit at age: 32 years
Fundus Photography - Right - 20/50 +2
Exemplar
Fundus Photography - Left - 20/40 -1
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Fundus Montage - Right - 20/50 +2
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Fundus Montage - Left - 20/40 -1
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Goldmann Visual Field - Right - 20/50 +2
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Goldmann Visual Field - Left - 20/40 -1
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Optical Coherence Tomography - Right - 20/50 +2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 +2
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Infrared Fundus Photograph - Left - 20/40 -1
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B-Scan Ultrasonography - Right - 20/50 +2
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B-Scan Ultrasonography - Left - 20/40 -1
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Visit at age: 33 years
Goldmann Visual Field - Right - 20/50 -1
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Goldmann Visual Field - Left - 20/40 -2
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Optical Coherence Tomography - Right - 20/50 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 -1
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Infrared Fundus Photograph - Left - 20/40 -2
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Visit at age: 34 years
Goldmann Visual Field - Right - 20/50 +1
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Goldmann Visual Field - Left - 20/40
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Optical Coherence Tomography - Right - 20/50 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 +1
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Infrared Fundus Photograph - Left - 20/40
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Visit at age: 34 years (Visit 2)
Optical Coherence Tomography - Right - 20/40 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/30 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -1
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Infrared Fundus Photograph - Left - 20/30 -1
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Visit at age: 35 years
Optical Coherence Tomography - Right - 20/50 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 +1
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Infrared Fundus Photograph - Left - 20/40 +2
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Visit at age: 35 years (Visit 2)
Optical Coherence Tomography - Right - 20/30 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/30
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/30 -2
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Infrared Fundus Photograph - Left - 20/30
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Visit at age: 36 years
Goldmann Visual Field - Right - 20/40
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Goldmann Visual Field - Left - 20/40 +1
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Optical Coherence Tomography - Right - 20/40
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 - 20/40
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Infrared Fundus Photograph - Left - 20/40 +1
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Visit at age: 37 years
Goldmann Visual Field - Right - 20/40 -2
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Goldmann Visual Field - Left - 20/40 -2
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Optical Coherence Tomography - Right - 20/40 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -2
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Infrared Fundus Photograph - Left - 20/40 -2
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Visit at age: 40 years
Goldmann Visual Field - Right - 20/40 -2
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Goldmann Visual Field - Left - 20/40 -1
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Optical Coherence Tomography - Right - 20/40 -2
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 - 20/40 -2
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Infrared Fundus Photograph - Left - 20/40 -1
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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 | MFRP | Tyr164 ins1taC | Tyr164 del1taC | AR |
Disease:
Gene:
Allele 1:
Tyr164 ins1taC
Allele 2:
Tyr164 del1taC
Inheritance:
AR