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StoneRounds Disease Atlas SR1992

SR1992

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Stickler Syndrome (IIIE1)

Male

Male

SR1992

Ladder View Download View

Stickler Syndrome (IIIE1)

Male

Male

Visit at age: 46 years

Fundus Photography - Right - 20/20 -1

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Fundus Photography - Left - 20/20 -1

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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

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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

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OCT Stack

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OCT Stack

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Visit at age: 51 years (Visit 2)

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OCT Stack

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OCT Stack

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Infrared Fundus Photograph - Left - 20/25 +2

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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

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Visit at age: 54 years

Fundus Photography - Right - 20/25 -1

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Fundus Photography - Left - 20/20 -1

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Optical Coherence Tomography - Right - 20/25 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

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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
Disease:
Stickler Syndrome
Gene:
COL2A1
Allele 1:
Gln39Stop CAG>TAG
Allele 2:
 
Inheritance:
AD
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