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SR2374

Best Disease (IIB)

Male

Male

SR2374

Best Disease (IIB)

Male

Male

Visit at age: 57 years

Fundus Photography - Right - 20/25 -2

Exemplar

Fundus Photography - Left - 20/125 -2

Exemplar

Fundus Montage - Right - 20/25 -2

Exemplar

Fundus Montage - Left - 20/125 -2

Exemplar

Goldmann Visual Field - Right - 20/25 -2

Exemplar

Goldmann Visual Field - Left - 20/125 -2

Exemplar

Optical Coherence Tomography - Right - 20/25 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/125 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -2

Exemplar

Infrared Fundus Photograph - Left - 20/125 -2

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Tyr227Cys TAC>TGC   AD
Disease:
Gene:
Allele 1:
Tyr227Cys TAC>TGC
Allele 2:
 
Inheritance:
AD
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