Case
SR172
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR172
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Visit at age: 7 years
Goldmann Visual Field - Right - 20/60 +1
Exemplar
Goldmann Visual Field - Left - 20/40 -2
Exemplar
Visit at age: 8 years
Fundus Photography - Right - 20/50 -1 sc
Exemplar
Fundus Photography - Left - 20/50 sc
Exemplar
Visit at age: 13 years
Fundus Photography - Right - 20/60
Exemplar
Fundus Photography - Left - 20/200
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Goldmann Visual Field - Right - 20/60
Exemplar
Goldmann Visual Field - Left - 20/200
Exemplar
Optical Coherence Tomography - Right - 20/60
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/60
Exemplar
Infrared Fundus Photograph - Left - 20/200
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Visit at age: 14 years
Goldmann Visual Field - Right - 20/63 +2
Exemplar
Goldmann Visual Field - Left - 20/160 +1
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Visit at age: 15 years
Goldmann Visual Field - Right - 20/80 +1
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Goldmann Visual Field - Left - 20/160 +1
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Optical Coherence Tomography - Right - 20/80 +1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80 +1
Exemplar
Infrared Fundus Photograph - Left - 20/160 +1
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Visit at age: 17 years
Goldmann Visual Field - Right - 20/80 -2
Exemplar
Goldmann Visual Field - Left - 20/125 -1
Exemplar
Optical Coherence Tomography - Right - 20/80 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80 -2
Exemplar
Infrared Fundus Photograph - Left - 20/125 -1
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Visit at age: 19 years
Fundus Photography - Right - 20/125 -2
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Fundus Photography - Left - 20/160 -1
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Fundus Montage - Right - 20/125 -2
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Fundus Montage - Left - 20/160 -1
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Goldmann Visual Field - Right - 20/125 -2
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Goldmann Visual Field - Left - 20/160 -1
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Optical Coherence Tomography - Right - 20/125 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -2
Exemplar
Infrared Fundus Photograph - Left - 20/160 -1
Exemplar
Visit at age: 21 years
Goldmann Visual Field - Right - 20/300 +1
Exemplar
Goldmann Visual Field - Left - 20/300
Exemplar
Optical Coherence Tomography - Right - 20/300 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/300
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/300 +1
Exemplar
Infrared Fundus Photograph - Left - 20/300
Exemplar
Visit at age: 23 years
Goldmann Visual Field - Right - 10/200 +1
Exemplar
Goldmann Visual Field - Left - 10/200 -2
Exemplar
Optical Coherence Tomography - Right - 10/200 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/200 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/200 +1
Exemplar
Infrared Fundus Photograph - Left - 10/200 -2
Exemplar
Visit at age: 25 years
Fundus Photography - Right - 5/200 sc
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Fundus Photography - Left - 5/200 sc
Exemplar
Goldmann Visual Field - Right - 5/200 sc
Exemplar
Goldmann Visual Field - Left - 5/200 sc
Exemplar
Optical Coherence Tomography - Right - 5/200 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 5/200 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 5/200 sc
Exemplar
Infrared Fundus Photograph - Left - 5/200 sc
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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 | IMPG2 | Val553 del1gT | Val553 del1gT | AR |
Disease:
Gene:
Allele 1:
Val553 del1gT
Allele 2:
Val553 del1gT
Inheritance:
AR