Case
SR33
Student Mode
Pattern Dystrophy (IIC)
Female
Female
Hidden
SR33
Student Mode
Pattern Dystrophy (IIC)
Female
Female
Visit at age: 37 years
Fundus Photography - Right - 20/15 -3 sc
Exemplar
Fundus Photography - Left - 20/15 -2 sc
Exemplar
Visit at age: 42 years
Fundus Photography - Right - 20/20 -1 sc
Exemplar
Fundus Photography - Left - 20/20 sc
Exemplar
Fluorescein Angiography - Right - 20/20 -1 sc
Exemplar
Fluorescein Angiography - Left - 20/20 sc
Exemplar
Visit at age: 49 years
Fundus Photography - Right - 20/15 -2
Exemplar
Fundus Photography - Left - 20/15 -2
Exemplar
Fluorescein Angiography - Right - 20/15 -2
Exemplar
Fluorescein Angiography - Left - 20/15 -2
Exemplar
Visit at age: 53 years
Fundus Photography - Right - 20/15 -2 sc
Exemplar
Fundus Photography - Left - 20/15 -1 sc
Exemplar
Visit at age: 57 years
Fundus Photography - Right - 20/20 sc
Exemplar
Fundus Photography - Left - 20/20 sc
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Fundus Montage - Right - 20/20 sc
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Fundus Montage - Left - 20/20 sc
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Visit at age: 59 years
Fundus Photography - Right - 20/20 -2 sc
Exemplar
Fundus Photography - Left - 20/25 sc
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Optical Coherence Tomography - Right - 20/20 -2 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/25 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/20 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/25 sc
Exemplar
Visit at age: 61 years
Fundus Photography - Right - 20/25 -1 sc
Exemplar
Fundus Photography - Left - 20/30 -1 sc
Exemplar
Optical Coherence Tomography - Right - 20/25 -1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/30 -1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/30 -1 sc
Exemplar
Visit at age: 63 years
Optical Coherence Tomography - Right - 20/20 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 +2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -1
Exemplar
Infrared Fundus Photograph - Left - 20/25 +2
Exemplar
Visit at age: 66 years
Optical Coherence Tomography - Right - 20/40 +2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 +2
Exemplar
Infrared Fundus Photograph - Left - 20/40 -1
Exemplar
Visit at age: 68 years
Optical Coherence Tomography - Right - 20/20 -3
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -3
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -3
Exemplar
Infrared Fundus Photograph - Left - 20/25 -3
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Blue Autofluorescence - Right - 20/20 -3
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Blue Autofluorescence - Left - 20/25 -3
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Visit at age: 70 years
Fundus Photography - Right - 20/20
Exemplar
Fundus Photography - Left - 20/32 +2
Exemplar
Optical Coherence Tomography - Right - 20/20
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20
Exemplar
Infrared Fundus Photograph - Left - 20/32 +2
Exemplar
Blue Autofluorescence - Right - 20/20
Exemplar
Blue Autofluorescence - Left - 20/32 +2
Exemplar
Visit at age: 72 years
Fundus Photography - Right - 20/25 -1
Exemplar
Fundus Photography - Left - 20/32 +1
Exemplar
Optical Coherence Tomography - Right - 20/25 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -1
Exemplar
Infrared Fundus Photograph - Left - 20/32 +1
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Case Level Images
Diagnosis & molecular findings
Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
Pattern Dystrophy |
PRPH2 |
Gly167Asp GGC>GAC |
|
AD |
Allele 1:
Gly167Asp GGC>GAC
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
Clear Diagnosis