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StoneRounds Disease Atlas SR518

SR518

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Best Disease (IIB)

Female

Female

SR518

Ladder View Download View

Best Disease (IIB)

Female

Female

Visit at age: 3 years

Fundus Photography - Right - 20/40

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Fundus Photography - Left - 20/40

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Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40

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OCT Stack

Infrared Fundus Photograph - Right - 20/40

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Infrared Fundus Photograph - Left - 20/40

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Visit at age: 4 years

Fundus Photography - Right - 20/40

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Fundus Photography - Left - 20/40

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Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40

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Infrared Fundus Photograph - Left - 20/40

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Visit at age: 4 years (Visit 2)

Fundus Photography - Right - 20/32

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Fundus Photography - Left - 20/32

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Optical Coherence Tomography - Right - 20/32

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32

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Infrared Fundus Photograph - Left - 20/32

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Visit at age: 5 years

Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40

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Infrared Fundus Photograph - Left - 20/40

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Visit at age: 6 years

Optical Coherence Tomography - Right - 20/40 +1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 +1

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Infrared Fundus Photograph - Left - 20/40 +1

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Blue Autofluorescence - Right - 20/40 +1

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Blue Autofluorescence - Left - 20/40 +1

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Visit at age: 7 years

Fundus Photography - Right - 20/40 +2

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Fundus Montage - Right - 20/40 +2

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Fundus Montage - Left - 20/40 +2

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Optical Coherence Tomography - Right - 20/40 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 +2

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Infrared Fundus Photograph - Left - 20/40 +2

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Blue Autofluorescence - Right - 20/40 +2

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Blue Autofluorescence - Left - 20/40 +2

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Visit at age: 8 years

Fundus Photography - Right - 20/25 -1

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Fundus Photography - Left - 20/32

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Optical Coherence Tomography - Right - 20/25 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -1

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Infrared Fundus Photograph - Left - 20/32

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Visit at age: 13 years

Optical Coherence Tomography - Right - 20/20 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -2

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Infrared Fundus Photograph - Left - 20/25

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Gly34Gly GGC>GGT Ile295Leu ATC>CTC AR
Disease:
Best Disease
Gene:
BEST1
Allele 1:
Gly34Gly GGC>GGT
Allele 2:
Ile295Leu ATC>CTC
Inheritance:
AR
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