Case
SR717
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Male
Male
Hidden
SR717
Student Mode
AD Retinitis Pigmentosa (IA1aii)
Male
Male
Visit at age: 36 years
Goldmann Visual Field - Right - 20/15 -2
Exemplar
Goldmann Visual Field - Left - 20/25
Exemplar
Visit at age: 37 years
Fundus Photography - Right - 20/20
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Fundus Photography - Left - 20/20 -3
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Visit at age: 41 years
Goldmann Visual Field - Right - 20/20 -1
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Goldmann Visual Field - Left - 20/20 -2 sc
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Visit at age: 44 years
Goldmann Visual Field - Right - 20/20 -1
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Goldmann Visual Field - Left - 20/25 +2
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Visit at age: 47 years
Goldmann Visual Field - Right - 20/25
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Goldmann Visual Field - Left - 20/25
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Visit at age: 49 years
Goldmann Visual Field - Right - 20/20 -1
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Goldmann Visual Field - Left - 20/25 +1
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Visit at age: 49 years (Visit 2)
Fundus Photography - Right - 20/20 -2
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Fundus Photography - Left - 20/30 +2
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Fundus Montage - Right - 20/20 -2
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Fundus Montage - Left - 20/30 +2
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Goldmann Visual Field - Right - 20/20 -2
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Goldmann Visual Field - Left - 20/30 +2
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Optical Coherence Tomography - Right - 20/20 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/30 +2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -2
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Infrared Fundus Photograph - Left - 20/30 +2
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Visit at age: 50 years
Optical Coherence Tomography - Right - 20/40 +2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/30
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 +2
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Infrared Fundus Photograph - Left - 20/30
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Visit at age: 51 years
Goldmann Visual Field - Right - 20/20
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Goldmann Visual Field - Left - 20/25 -1
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Visit at age: 51 years (Visit 2)
Optical Coherence Tomography - Right - 20/20 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 +2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -2
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Infrared Fundus Photograph - Left - 20/40 +2
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Visit at age: 53 years
Goldmann Visual Field - Right - 20/20 -1
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Goldmann Visual Field - Left - 20/25 -1
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Optical Coherence Tomography - Right - 20/20 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -1
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Infrared Fundus Photograph - Left - 20/25 -1
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Visit at age: 55 years
Goldmann Visual Field - Right - 20/25 +1
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Goldmann Visual Field - Left - 20/32 +2
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Visit at age: 55 years (Visit 2)
Optical Coherence Tomography - Right - 20/20
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20
Exemplar
Infrared Fundus Photograph - Left - 20/25 +2
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Visit at age: 55 years (Visit 3)
Optical Coherence Tomography - Right - 20/20
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20
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Infrared Fundus Photograph - Left - 20/25 +2
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Visit at age: 57 years
Fundus Photography - Right - 20/32 +1
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Fundus Photography - Left - 20/32 -2
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Goldmann Visual Field - Right - 20/32 +1
Exemplar
Goldmann Visual Field - Left - 20/32 -2
Exemplar
Optical Coherence Tomography - Right - 20/32 +1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 +1
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Infrared Fundus Photograph - Left - 20/32 -2
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Retinitis Pigmentosa | PRPF31 | Lys73Stop AAG>TAG | AD |