Case
SR71
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR71
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Visit at age: 7 years
Fundus Photography - Right - 20/25 -2
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Fundus Photography - Left - 20/20
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Fundus Montage - Right - 20/25 -2
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Fundus Montage - Left - 20/20
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Goldmann Visual Field - Right - 20/25 -2
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Goldmann Visual Field - Left - 20/20
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Optical Coherence Tomography - Right - 20/25 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -2
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Infrared Fundus Photograph - Left - 20/20
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Visit at age: 7 years (Visit 2)
Goldmann Visual Field - Right - 20/20 -2
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Goldmann Visual Field - Left - 20/20 -2
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Optical Coherence Tomography - Right - 20/20 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -2
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Infrared Fundus Photograph - Left - 20/20 -2
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Visit at age: 9 years
Goldmann Visual Field - Right - 20/20 -2
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Goldmann Visual Field - Left - 20/20 -2
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Optical Coherence Tomography - Right - 20/20 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -2
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Infrared Fundus Photograph - Left - 20/20 -2
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Visit at age: 10 years
Goldmann Visual Field - Right - 20/20
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Goldmann Visual Field - Left - 20/20
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Optical Coherence Tomography - Right - 20/20
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20
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Infrared Fundus Photograph - Left - 20/20
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Visit at age: 12 years
Goldmann Visual Field - Right - 20/20 +1
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Goldmann Visual Field - Left - 20/20 +1
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Optical Coherence Tomography - Right - 20/20 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 +1
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Infrared Fundus Photograph - Left - 20/20 +1
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Visit at age: 14 years
Goldmann Visual Field - Right - 20/20
Exemplar
Goldmann Visual Field - Left - 20/20 +2
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Optical Coherence Tomography - Right - 20/20
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20
Exemplar
Infrared Fundus Photograph - Left - 20/20 +2
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Visit at age: 15 years
Optical Coherence Tomography - Right - 20/20 +2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 +2
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Infrared Fundus Photograph - Left - 20/20 -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 | PDE6B | Met1Thr ATG>ACG | Leu489Pro CTG>CCG | AR |
Disease:
Gene:
Allele 1:
Met1Thr ATG>ACG
Allele 2:
Leu489Pro CTG>CCG
Inheritance:
AR