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SR1939

Best Disease (IIB)

Male

Male

SR1939

Best Disease (IIB)

Male

Male

Visit at age: 50 years

Fundus Photography - Right - 20/20

Exemplar

Fundus Photography - Left - 20/20

Exemplar

Visit at age: 75 years

Fundus Photography - Right - 20/15 -3

Exemplar

Fundus Photography - Left - 20/20 +3

Exemplar

Visit at age: 76 years

Fundus Photography - Right - 20/25 -1

Exemplar

Fundus Photography - Left - 20/25 -2

Exemplar

Fluorescein Angiography - Right - 20/25 -1

Exemplar

Fluorescein Angiography - Left - 20/25 -2

Exemplar

Visit at age: 78 years

Fundus Photography - Right - 20/30

Exemplar

Fundus Photography - Left - 20/30

Exemplar

Visit at age: 79 years

Fundus Photography - Right - 20/30 +2

Exemplar

Fundus Photography - Left - 20/40 +3

Exemplar

Visit at age: 80 years

Fundus Photography - Right - 20/50 -1

Exemplar

Fundus Photography - Left - 20/60 -2

Exemplar

Fluorescein Angiography - Right - 20/50 -1

Exemplar

Fluorescein Angiography - Left - 20/60 -2

Exemplar

Visit at age: 81 years

Fundus Photography - Right - 20/30 -2

Exemplar

Fundus Photography - Left - 20/40 -2

Exemplar

Visit at age: 83 years

Fundus Photography - Right - 20/30

Exemplar

Fundus Photography - Left - 20/50

Exemplar

Visit at age: 84 years

Fundus Photography - Right - 20/30 -2

Exemplar

Fundus Photography - Left - 20/60 -1

Exemplar

Fluorescein Angiography - Right - 20/30 -2

Exemplar

Fluorescein Angiography - Left - 20/60 -1

Exemplar

Visit at age: 85+ (Visit 1)

Fundus Photography - Right - 20/30 -1

Exemplar

Fundus Photography - Left - 20/60

Exemplar

Visit at age: 85+ (Visit 2)

Fundus Photography - Right - 20/40

Exemplar

Fundus Photography - Left - 20/50

Exemplar

Visit at age: 85+ (Visit 3)

Fundus Photography - Right - 20/30

Exemplar

Fundus Photography - Left - 20/70 +2

Exemplar

Fundus Montage - Right - 20/30

Exemplar

Fundus Montage - Left - 20/70 +2

Exemplar

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