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StoneRounds Disease Atlas SR1914

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SR1914

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Bardet Biedl Syndrome (IB2)

Male

Male

SR1914

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Bardet Biedl Syndrome (IB2)

Male

Male

Visit at age: 11 years

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OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 11 years (Visit 2)

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OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 12 years

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OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 15 years

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Fundus Montage - Left - 20/50

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Goldmann Visual Field - Right - 20/50 -1

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Goldmann Visual Field - Left - 20/50

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Optical Coherence Tomography - Right - 20/50 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50

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OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 -1

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Infrared Fundus Photograph - Left - 20/50

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Visit at age: 16 years

Fundus Photography - Right - 20/50 +2

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Goldmann Visual Field - Right - 20/50 +2

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Goldmann Visual Field - Left - 20/40 -2

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Optical Coherence Tomography - Right - 20/50 +2

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OCT Stack

Optical Coherence Tomography - Left - 20/40 -2

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OCT Stack

Infrared Fundus Photograph - Right - 20/50 +2

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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 BBS10 Leu90 ins1cT Leu90 ins1cT AR
Disease:
Bardet Biedl Syndrome
Gene:
BBS10
Allele 1:
Leu90 ins1cT
Allele 2:
Leu90 ins1cT
Inheritance:
AR
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