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StoneRounds Disease Atlas SR2736

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SR2736

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Best Disease (IIB)

Male

Male

SR2736

Ladder View Download View

Best Disease (IIB)

Male

Male

Visit at age: 49 years

Fundus Photography - Right - 20/25

Exemplar

Fundus Photography - Left - 20/20

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Fundus Montage - Right - 20/25

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Fundus Montage - Left - 20/20

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Goldmann Visual Field - Right - 20/25

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Goldmann Visual Field - Left - 20/20

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Optical Coherence Tomography - Right - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25

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Infrared Fundus Photograph - Left - 20/20

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Blue Autofluorescence - Right - 20/25

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Blue Autofluorescence - Left - 20/20

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Visit at age: 51 years

Optical Coherence Tomography - Right - 20/20

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

Exemplar

Infrared Fundus Photograph - Left - 20/25 +2

Exemplar

Visit at age: 52 years

Optical Coherence Tomography - Right - 20/20

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

Exemplar

Infrared Fundus Photograph - Left - 20/25 +2

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Ala243Val GCG>GTG   AD
Disease:
Best Disease
Gene:
BEST1
Allele 1:
Ala243Val GCG>GTG
Allele 2:
 
Inheritance:
AD
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