Case
SR29
Student Mode
Malattia Leventinese (IIJ)
Female
Female
Hidden
SR29
Student Mode
Malattia Leventinese (IIJ)
Female
Female
Visit at age: 19 years
Fundus Photography - Right - 20/20 sc
Exemplar
Fundus Photography - Left - 20/20 sc
Exemplar
Visit at age: 35 years
Fundus Photography - Right - 20/25 -2 sc
Exemplar
Fundus Photography - Left - 20/20 -1 sc
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Visit at age: 43 years
Fundus Photography - Right - 20/25 +2
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Fundus Photography - Left - 20/30
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Visit at age: 47 years
Fundus Photography - Right - 20/60
Exemplar
Fundus Photography - Left - 20/70 -1
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Visit at age: 58 years
Optical Coherence Tomography - Right - 20/250
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/250
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Visit at age: 58 years (Visit 2)
Optical Coherence Tomography - Right - 20/150
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/150
Exemplar
Visit at age: 58 years (Visit 3)
Optical Coherence Tomography - Right - 20/80 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80 -1
Exemplar
Visit at age: 59 years
Optical Coherence Tomography - Right - 20/100
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100
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Visit at age: 60 years
Optical Coherence Tomography - Right - 20/200
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200
Exemplar
Visit at age: 60 years (Visit 2)
Optical Coherence Tomography - Right - 20/100
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100
Exemplar
Visit at age: 60 years (Visit 3)
Optical Coherence Tomography - Right - 20/150
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/150
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Visit at age: 60 years (Visit 4)
Optical Coherence Tomography - Right - 20/125 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -2
Exemplar
Visit at age: 60 years (Visit 5)
Optical Coherence Tomography - Right - 20/150
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/150
Exemplar
Visit at age: 60 years (Visit 6)
Optical Coherence Tomography - Right - 20/125 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 +1
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Visit at age: 60 years (Visit 7)
Optical Coherence Tomography - Right - 20/125 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -1
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Visit at age: 60 years (Visit 8)
Optical Coherence Tomography - Right - 20/125 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -1
Exemplar
Visit at age: 60 years (Visit 9)
Optical Coherence Tomography - Right - 20/100 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 +1
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Visit at age: 61 years
Optical Coherence Tomography - Right - 20/100
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100
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Visit at age: 61 years (Visit 2)
Optical Coherence Tomography - Right - 20/100
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100
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Visit at age: 61 years (Visit 3)
Optical Coherence Tomography - Right - 20/150 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/150 sc
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Visit at age: 61 years (Visit 4)
Optical Coherence Tomography - Right - 20/150 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/150 sc
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Visit at age: 61 years (Visit 5)
Optical Coherence Tomography - Right - 20/150 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/150 sc
Exemplar
Visit at age: 61 years (Visit 6)
Optical Coherence Tomography - Right - 20/200 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 sc
Exemplar
Visit at age: 61 years (Visit 7)
Optical Coherence Tomography - Right - 20/150 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/150 sc
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Visit at age: 62 years
Optical Coherence Tomography - Right - 20/200 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 sc
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Malattia Leventinese | EFEMP1 | Arg345Trp CGG>TGG | AD |