Case
SR1992
Student Mode
Stickler Syndrome (IIIE1)
Male
Male
Hidden
SR1992
Student Mode
Stickler Syndrome (IIIE1)
Male
Male
Visit at age: 46 years
Fundus Photography - Right - 20/20 -1
Exemplar
Fundus Photography - Left - 20/20 -1
Exemplar
Fundus Montage - Right - 20/20 -1
Exemplar
Fundus Montage - Left - 20/20 -1
Exemplar
Visit at age: 47 years
B-Scan Ultrasonography - Right - 20/20
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B-Scan Ultrasonography - Left - 20/20
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Blue Autofluorescence - Right - 20/20
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Blue Autofluorescence - Left - 20/20
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Visit at age: 49 years
Fundus Photography - Right - 20/20
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Fundus Photography - Left - 20/20
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Visit at age: 50 years
Fundus Photography - Right - 20/25 +1
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Fundus Photography - Left - 20/20
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Visit at age: 51 years
Fundus Photography - Right - 20/63
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Fundus Photography - Left - 20/20 -1
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Optical Coherence Tomography - Right - 20/63
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63
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Infrared Fundus Photograph - Left - 20/20 -1
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Visit at age: 51 years (Visit 2)
Optical Coherence Tomography - Right - 20/300
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 +2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/300
Exemplar
Infrared Fundus Photograph - Left - 20/25 +2
Exemplar
Visit at age: 52 years
Optical Coherence Tomography - Right - 20/25 -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 - 20/25 -1
Exemplar
Infrared Fundus Photograph - Left - 20/20 -1
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Visit at age: 54 years
Fundus Photography - Right - 20/25 -1
Exemplar
Fundus Photography - Left - 20/20 -1
Exemplar
Optical Coherence Tomography - Right - 20/25 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -1
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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 |
|---|---|---|---|---|
| Stickler Syndrome | COL2A1 | Gln39Stop CAG>TAG | AD |