SR2786

Best Disease (IIB)

Female

Female

SR2786

Best Disease (IIB)

Female

Female

Visit at age: 7 years

Fundus Photography - Right - 20/50

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Fundus Photography - Left - 20/40 +1

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Fundus Montage - Right - 20/50

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Fundus Montage - Left - 20/40 +1

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Optical Coherence Tomography - Right - 20/50

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/40 +1

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/50

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Infrared Fundus Photograph - Left - 20/40 +1

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Visit at age: 10 years

Optical Coherence Tomography - Right - 20/32 -1

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/32 +2

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/32 -1

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Infrared Fundus Photograph - Left - 20/32 +2

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Visit at age: 13 years

Optical Coherence Tomography - Right - 20/32 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32 +2

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Infrared Fundus Photograph - Left - 20/25 -1

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Blue Autofluorescence - Right - 20/32 +2

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Visit at age: 18 years

Fundus Photography - Right - 20/32 -1

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Fundus Photography - Left - 20/200 -2

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Optical Coherence Tomography - Right - 20/32 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/200 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/32 -1

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Infrared Fundus Photograph - Left - 20/200 -2

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Visit at age: 18 years (Visit 2)

Fundus Photography - Right - 20/30 -1

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Fundus Photography - Left - 20/80 -1

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Optical Coherence Tomography - Right - 20/30 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30 -1

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Infrared Fundus Photograph - Left - 20/80 -1

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Visit at age: 18 years (Visit 3)

Fundus Photography - Right - 20/60

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Fundus Photography - Left - 20/80 +1

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Optical Coherence Tomography - Right - 20/60

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/80 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/60

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Infrared Fundus Photograph - Left - 20/80 +1

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Visit at age: 18 years (Visit 4)

Fundus Photography - Right - 20/80 -1

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Fundus Photography - Left - 20/40 -2

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Optical Coherence Tomography - Right - 20/80 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/40 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 -1

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Infrared Fundus Photograph - Left - 20/40 -2

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Visit at age: 18 years (Visit 5)

Optical Coherence Tomography - Right - 20/80

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/30 +2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80

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Infrared Fundus Photograph - Left - 20/30 +2

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Visit at age: 18 years (Visit 6)

Optical Coherence Tomography - Right - 20/80 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/80 -1

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Infrared Fundus Photograph - Left - 20/20 -2

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Visit at age: 18 years (Visit 7)

Optical Coherence Tomography - Right - 20/100 +1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 +2

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/100 +1

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Infrared Fundus Photograph - Left - 20/25 +2

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Visit at age: 18 years (Visit 8)

Optical Coherence Tomography - Right - 20/60 +2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 +1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/60 +2

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Infrared Fundus Photograph - Left - 20/25 +1

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Visit at age: 18 years (Visit 9)

Fundus Photography - Right - 20/40 +1

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Fundus Photography - Left - 20/20 -3

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Optical Coherence Tomography - Right - 20/40 +1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -3

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 +1

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Infrared Fundus Photograph - Left - 20/20 -3

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Visit at age: 19 years

Fundus Photography - Right - 20/50 +2

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Fundus Photography - Left - 20/20 -1

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Optical Coherence Tomography - Right - 20/50 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/50 +2

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Infrared Fundus Photograph - Left - 20/20 -1

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Visit at age: 19 years (Visit 2)

Optical Coherence Tomography - Right - 20/40 -1

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

Optical Coherence Tomography - Left - 20/25 -2

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

Infrared Fundus Photograph - Right - 20/40 -1

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Visit at age: 19 years (Visit 3)

Fundus Photography - Right - 20/40 -2

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Fundus Photography - Left - 20/30 +2

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Optical Coherence Tomography - Right - 20/40 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/30 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -2

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Infrared Fundus Photograph - Left - 20/30 +2

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Visit at age: 19 years (Visit 4)

Fundus Photography - Right - 20/30

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Fundus Photography - Left - 20/25

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Optical Coherence Tomography - Right - 20/30

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30

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Infrared Fundus Photograph - Left - 20/25

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Visit at age: 19 years (Visit 5)

Optical Coherence Tomography - Right - 20/40

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/30 +2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40

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Infrared Fundus Photograph - Left - 20/30 +2

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Visit at age: 19 years (Visit 6)

Optical Coherence Tomography - Right - 20/25 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -1

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Infrared Fundus Photograph - Left - 20/20 -1

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Visit at age: 19 years (Visit 7)

Optical Coherence Tomography - Right - 20/30 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/30 -2

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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 Thr2Asn ACC>AAC   AD
Disease:
Gene:
Allele 1:
Thr2Asn ACC>AAC
Allele 2:
 
Inheritance:
AD
Cite this case