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StoneRounds Disease Atlas SR1922

SR1922

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Best Disease (IIB)

Female

Female

SR1922

Ladder View Download View

Best Disease (IIB)

Female

Female

Visit at age: 12 years

Fundus Photography - Right - 20/32 -1

Exemplar

Fundus Photography - Left - 20/40 -2

Exemplar

Fundus Montage - Right - 20/32 -1

Exemplar

Fundus Montage - Left - 20/40 -2

Exemplar

Goldmann Visual Field - Right - 20/32 -1

Exemplar

Goldmann Visual Field - Left - 20/40 -2

Exemplar

Optical Coherence Tomography - Right - 20/32 -1

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 - 20/32 -1

Exemplar

Infrared Fundus Photograph - Left - 20/40 -2

Exemplar

Blue Autofluorescence - Right - 20/32 -1

Exemplar

Blue Autofluorescence - Left - 20/40 -2

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Leu134Val CTG>GTG Gly286Ser GGC>AGC AR
Disease:
Best Disease
Gene:
BEST1
Allele 1:
Leu134Val CTG>GTG
Allele 2:
Gly286Ser GGC>AGC
Inheritance:
AR
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