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StoneRounds Disease Atlas SR598

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SR598

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Stickler Syndrome (IIIE1)

Female

Female

SR598

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Stickler Syndrome (IIIE1)

Female

Female

Visit at age: 28 years

Goldmann Visual Field - Right - 20/50

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Goldmann Visual Field - Left - 20/40

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Visit at age: 28 years (Visit 2)

Fundus Photography - Right - 20/60 -2

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Fundus Photography - Left - 20/30

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Fluorescein Angiography - Right - 20/60 -2

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Fluorescein Angiography - Left - 20/30

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Visit at age: 29 years

Goldmann Visual Field - Right - 20/40

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Goldmann Visual Field - Left - 20/50

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Visit at age: 32 years

Goldmann Visual Field - Right - 20/30 -2

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Goldmann Visual Field - Left - 20/25 -2

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Visit at age: 36 years

Fundus Photography - Right - 20/40 +2

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Fundus Photography - Left - 20/25 +2

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Optical Coherence Tomography - Right - 20/40 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 +2

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Infrared Fundus Photograph - Left - 20/25 +2

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Visit at age: 37 years

Fundus Photography - Right - 20/30

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Fundus Photography - Left - 20/25 -2

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Goldmann Visual Field - Right - 20/30

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Goldmann Visual Field - Left - 20/25 -2

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Visit at age: 38 years

Optical Coherence Tomography - Right - 20/25 -3

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -3

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Infrared Fundus Photograph - Left - 20/25 -2

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Visit at age: 39 years

Optical Coherence Tomography - Right - 20/30 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/30 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30 +2

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Infrared Fundus Photograph - Left - 20/30 +1

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Visit at age: 41 years

Fundus Photography - Right - 20/30 +2

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Fundus Photography - Left - 20/30 +2

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Fundus Montage - Right - 20/30 +2

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Fundus Montage - Left - 20/30 +2

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Visit at age: 41 years (Visit 2)

Fundus Photography - Right - 20/32 -1

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Fundus Photography - Left - 20/32

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Fundus Montage - Right - 20/32 -1

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Fundus Montage - Left - 20/32

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Optical Coherence Tomography - Right - 20/32 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32 -1

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Infrared Fundus Photograph - Left - 20/32

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Visit at age: 42 years

Fundus Photography - Right - 20/40 +2

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Fundus Photography - Left - 20/30 +2

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Fundus Montage - Right - 20/40 +2

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Fundus Montage - Left - 20/30 +2

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Optical Coherence Tomography - Right - 20/40 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/30 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 +2

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Infrared Fundus Photograph - Left - 20/30 +2

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Visit at age: 42 years (Visit 2)

Fundus Photography - Right - 20/30 -2

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Fundus Photography - Left - 20/25 -2

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Optical Coherence Tomography - Right - 20/30 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30 -2

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Infrared Fundus Photograph - Left - 20/25 -2

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Visit at age: 43 years

Optical Coherence Tomography - Right - 20/25 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/30 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -1

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Infrared Fundus Photograph - Left - 20/30 -2

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Visit at age: 44 years

Optical Coherence Tomography - Right - 20/30 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30 -1

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Infrared Fundus Photograph - Left - 20/40

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Visit at age: 45 years

Optical Coherence Tomography - Right - 20/20 -3

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -3

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Infrared Fundus Photograph - Left - 20/25 +2

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Visit at age: 46 years

Optical Coherence Tomography - Right - 20/25 -3

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/30 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -3

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Infrared Fundus Photograph - Left - 20/30 +1

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Visit at age: 47 years

Optical Coherence Tomography - Right - 20/30 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30 +1

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Infrared Fundus Photograph - Left - 20/25 +2

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Visit at age: 47 years (Visit 2)

Fundus Photography - Right - 20/32 -1

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Fundus Photography - Left - 20/32

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Optical Coherence Tomography - Right - 20/32 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32 -1

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Infrared Fundus Photograph - Left - 20/32

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Visit at age: 48 years

Fundus Photography - Right - 20/40 +1

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Fundus Photography - Left - 20/40 +1

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Optical Coherence Tomography - Right - 20/40 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 +1

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Infrared Fundus Photograph - Left - 20/40 +1

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Visit at age: 49 years

Optical Coherence Tomography - Right - 20/40 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32 +1

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OCT Stack

Infrared Fundus Photograph - Right - 20/40 +2

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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 Arg785Stop CGA>TGA   AD
Disease:
Stickler Syndrome
Gene:
COL2A1
Allele 1:
Arg785Stop CGA>TGA
Allele 2:
 
Inheritance:
AD
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