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StoneRounds Disease Atlas SR1065

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SR1065

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Bardet Biedl Syndrome (IB2)

Female

Female

SR1065

Ladder View Download View

Bardet Biedl Syndrome (IB2)

Female

Female

Visit at age: 44 years

Fundus Photography - Right - Count Fingers

Exemplar

Fundus Photography - Left - Count Fingers

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Goldmann Visual Field - Right - Count Fingers

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Goldmann Visual Field - Left - Count Fingers

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Optical Coherence Tomography - Right - Count Fingers

Exemplar / OCT Stack

Optical Coherence Tomography - Left - Count Fingers

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - Count Fingers

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Infrared Fundus Photograph - Left - Count Fingers

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Visit at age: 47 years

Fundus Photography - Right - 20/1000 sc

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Fundus Photography - Left - 20/500 sc

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Fundus Montage - Right - 20/1000 sc

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Fundus Montage - Left - 20/500 sc

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Goldmann Visual Field - Right - 20/1000 sc

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Goldmann Visual Field - Left - 20/500 sc

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Optical Coherence Tomography - Right - 20/1000 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/500 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/1000 sc

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Infrared Fundus Photograph - Left - 20/500 sc

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Visit at age: 49 years

Goldmann Visual Field - Right - 20/1250 sc

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Goldmann Visual Field - Left - 20/500 sc

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Optical Coherence Tomography - Right - 20/1250 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/500 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/1250 sc

Exemplar

Infrared Fundus Photograph - Left - 20/500 sc

Exemplar

Visit at age: 52 years

Optical Coherence Tomography - Right - 20/400 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/1000 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/400 sc

Exemplar

Infrared Fundus Photograph - Left - 20/1000 sc

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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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