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SR2015

Best Disease (IIB)

Female

Female

SR2015

Best Disease (IIB)

Female

Female

Visit at age: 37 years

Fundus Photography - Right - unknown

Exemplar

Visit at age: 62 years

Fundus Photography - Right - 20/30 +1

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Fundus Photography - Left - 20/25 -1

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Visit at age: 62 years (Visit 2)

Fundus Photography - Right - 20/30 +1

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Fundus Photography - Left - 20/25 -1

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Fluorescein Angiography - Right - 20/30 +1

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Fluorescein Angiography - Left - 20/25 -1

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Visit at age: 71 years

Fundus Photography - Right - 20/50 +3

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Fundus Photography - Left - 20/40 -2

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Visit at age: 74 years

Fundus Photography - Right - 20/40

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Fundus Photography - Left - 20/60

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Visit at age: 76 years

Goldmann Visual Field - Right - 20/40 -2

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Goldmann Visual Field - Left - 20/50

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Visit at age: 77 years

Fundus Photography - Right - 20/50 -2

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Fundus Photography - Left - 20/50 -2

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Visit at age: 78 years

Fundus Photography - Right - 20/60

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Fundus Photography - Left - 20/40 -2

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Visit at age: 82 years

Fundus Photography - Right - 20/70 -1

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Fundus Photography - Left - 20/50 -2

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Fundus Montage - Right - 20/70 -1

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Fundus Montage - Left - 20/50 -2

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Visit at age: 83 years

Optical Coherence Tomography - Right - 20/100 -1

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/40 -3

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/100 -1

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Infrared Fundus Photograph - Left - 20/40 -3

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Visit at age: 83 years (Visit 2)

Fundus Photography - Right - 20/80

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Fundus Photography - Left - 20/50 -2

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Optical Coherence Tomography - Right - 20/80

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/50 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80

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Infrared Fundus Photograph - Left - 20/50 -2

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Visit at age: 84 years

Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/60

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/40

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Infrared Fundus Photograph - Left - 20/60

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Visit at age: 85+ (Visit 1)

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: 85+ (Visit 2)

Optical Coherence Tomography - Right - 20/70

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/100

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/70

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Infrared Fundus Photograph - Left - 20/100

Exemplar

Visit at age: 85+ (Visit 3)

Optical Coherence Tomography - Right - 20/60 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/125

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/60 -2

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Infrared Fundus Photograph - Left - 20/125

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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 Tyr227Asn TAC>AAC   AD
Disease:
Gene:
Allele 1:
Tyr227Asn TAC>AAC
Allele 2:
 
Inheritance:
AD
Cite this case