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StoneRounds Disease Atlas SR56

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SR56

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Bardet Biedl Syndrome (IB2)

Male

Male

SR56

Ladder View Download View

Bardet Biedl Syndrome (IB2)

Male

Male

Visit at age: 11 years

Fundus Photography - Right - 20/50 -3

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Fundus Photography - Left - 20/50 -2

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Goldmann Visual Field - Right - 20/50 -3

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Goldmann Visual Field - Left - 20/50 -2

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Visit at age: 14 years

Fundus Photography - Right - 20/100

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Fundus Photography - Left - 20/100

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Goldmann Visual Field - Right - 20/100

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Goldmann Visual Field - Left - 20/100

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Visit at age: 15 years

Goldmann Visual Field - Right - 20/70

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Goldmann Visual Field - Left - 20/70

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Visit at age: 17 years

Fundus Photography - Right - 20/200 +1

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Fundus Photography - Left - 20/200 +1

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Goldmann Visual Field - Right - 20/200 +1

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Goldmann Visual Field - Left - 20/200 +1

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Visit at age: 22 years

Fundus Photography - Right - Count Fingers 1' sc

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Fundus Photography - Left - Count Fingers 1' sc

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Goldmann Visual Field - Right - Count Fingers 1' sc

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Goldmann Visual Field - Left - Count Fingers 1' sc

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Visit at age: 28 years

Fundus Photography - Right - 5/160 sc

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Fundus Photography - Left - 5/200 sc

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Goldmann Visual Field - Right - 5/160 sc

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Goldmann Visual Field - Left - 5/200 sc

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Visit at age: 31 years

Goldmann Visual Field - Right - Hand Motion sc

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Goldmann Visual Field - Left - Count Fingers sc

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Visit at age: 32 years

Goldmann Visual Field - Right - Count Fingers 3' sc

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Goldmann Visual Field - Left - Hand Motion 1' sc

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Visit at age: 33 years

Fundus Photography - Right - Hand Motion sc

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Fundus Photography - Left - Hand Motion sc

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Fundus Montage - Right - Hand Motion sc

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Fundus Montage - Left - Hand Motion sc

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Optical Coherence Tomography - Right - Hand Motion sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Hand Motion sc

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - Hand Motion sc

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Infrared Fundus Photograph - Left - Hand Motion sc

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Visit at age: 34 years

Optical Coherence Tomography - Right - Hand Motion sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Hand Motion sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Hand Motion sc

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Infrared Fundus Photograph - Left - Hand Motion sc

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Visit at age: 36 years

Goldmann Visual Field - Right - Hand Motion sc

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Goldmann Visual Field - Left - Hand Motion sc

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Optical Coherence Tomography - Right - Hand Motion sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Hand Motion sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Hand Motion sc

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Infrared Fundus Photograph - Left - Hand Motion sc

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Visit at age: 37 years

Optical Coherence Tomography - Right - Hand Motion sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Hand Motion sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Hand Motion sc

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Infrared Fundus Photograph - Left - Hand Motion sc

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Visit at age: 38 years

Fundus Photography - Right - Hand Motion sc

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Fundus Photography - Left - Hand Motion sc

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Goldmann Visual Field - Right - Hand Motion sc

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Goldmann Visual Field - Left - Hand Motion sc

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Optical Coherence Tomography - Right - Hand Motion sc

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

Optical Coherence Tomography - Left - Hand Motion sc

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

Infrared Fundus Photograph - Right - Hand Motion sc

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Infrared Fundus Photograph - Left - Hand Motion sc

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Visit at age: 39 years

Optical Coherence Tomography - Right - Hand Motion @ face sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Light Perception

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Hand Motion @ face sc

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Infrared Fundus Photograph - Left - Light Perception

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Visit at age: 41 years

Goldmann Visual Field - Right - Hand Motion sc

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Goldmann Visual Field - Left - Hand Motion sc

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Optical Coherence Tomography - Right - Hand Motion sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Hand Motion sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Hand Motion sc

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Infrared Fundus Photograph - Left - Hand Motion sc

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Visit at age: 42 years

Optical Coherence Tomography - Right - Hand Motion 1' sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Hand Motion 1' sc

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - Hand Motion 1' sc

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Infrared Fundus Photograph - Left - Hand Motion 1' sc

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Visit at age: 43 years

Optical Coherence Tomography - Right - Hand Motion 1' sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Hand Motion 1' sc

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

Infrared Fundus Photograph - Right - Hand Motion 1' sc

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Infrared Fundus Photograph - Left - Hand Motion 1' sc

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Visit at age: 45 years

Optical Coherence Tomography - Right - Hand Motion

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - Hand Motion

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - Hand Motion

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Infrared Fundus Photograph - Left - Hand Motion

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Bardet Biedl Syndrome BBS1 Met390Arg ATG>AGG Met390Arg ATG>AGG AR
Disease:
Bardet Biedl Syndrome
Gene:
BBS1
Allele 1:
Met390Arg ATG>AGG
Allele 2:
Met390Arg ATG>AGG
Inheritance:
AR
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