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StoneRounds Disease Atlas SR599

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SR599

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Bardet Biedl Syndrome (IB2)

Male

Male

SR599

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Bardet Biedl Syndrome (IB2)

Male

Male

Visit at age: 15 years

Fundus Photography - Right - 20/25 +1

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Fundus Photography - Left - 20/20

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Goldmann Visual Field - Right - 20/25 +1

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Goldmann Visual Field - Left - 20/20

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Visit at age: 16 years

Goldmann Visual Field - Right - 20/40 +2

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Goldmann Visual Field - Left - 20/20 -1

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Visit at age: 18 years

Goldmann Visual Field - Right - 20/50 +2

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Goldmann Visual Field - Left - 20/30 -2

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Visit at age: 22 years

Goldmann Visual Field - Right - 20/25 -2

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Goldmann Visual Field - Left - 20/30 -2

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Visit at age: 38 years

Fundus Photography - Right - 20/80

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Fundus Photography - Left - 20/40 +1

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Fundus Montage - Right - 20/80

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Fundus Montage - Left - 20/40 +1

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Goldmann Visual Field - Right - 20/80

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Goldmann Visual Field - Left - 20/40 +1

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Visit at age: 47 years

Fundus Photography - Right - 20/125 +1

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Fundus Photography - Left - 20/100

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Fundus Montage - Right - 20/125 +1

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Fundus Montage - Left - 20/100

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Goldmann Visual Field - Right - 20/125 +1

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Goldmann Visual Field - Left - 20/100

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Optical Coherence Tomography - Right - 20/125 +1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/125 +1

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Infrared Fundus Photograph - Left - 20/100

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Visit at age: 49 years

Optical Coherence Tomography - Right - 20/125

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/125

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Infrared Fundus Photograph - Left - 20/100 -1

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Visit at age: 52 years

Goldmann Visual Field - Right - 20/100 -1

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Goldmann Visual Field - Left - 20/100 +1

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Optical Coherence Tomography - Right - 20/100 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/100 -1

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Infrared Fundus Photograph - Left - 20/100 +1

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Visit at age: 55 years

Goldmann Visual Field - Right - 20/125 -1

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Goldmann Visual Field - Left - 20/125 -1

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Optical Coherence Tomography - Right - 20/125 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/125 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/125 -1

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Infrared Fundus Photograph - Left - 20/125 -1

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Visit at age: 57 years

Goldmann Visual Field - Right - 20/160 -2

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Goldmann Visual Field - Left - 20/160 -2

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Optical Coherence Tomography - Right - 20/160 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/160 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/160 -2

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Infrared Fundus Photograph - Left - 20/160 -2

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Visit at age: 59 years

Optical Coherence Tomography - Right - 10/160 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 10/160 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 10/160 +1

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Infrared Fundus Photograph - Left - 10/160 -1

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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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