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StoneRounds Disease Atlas SR86

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SR86

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AD CSNB (IA2fii)

Female

Female

SR86

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AD CSNB (IA2fii)

Female

Female

Visit at age: 44 years

Fundus Photography - Right - 20/16 -1

Exemplar

Fundus Photography - Left - 20/20

Exemplar

Fundus Montage - Right - 20/16 -1

Exemplar

Fundus Montage - Left - 20/20

Exemplar

Goldmann Visual Field - Right - 20/16 -1

Exemplar

Goldmann Visual Field - Left - 20/20

Exemplar

Optical Coherence Tomography - Right - 20/16 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/16 -1

Exemplar

Infrared Fundus Photograph - Left - 20/20

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD CSNB PDE6B His258Asn CAC>AAC   AD
Disease:
AD CSNB
Gene:
PDE6B
Allele 1:
His258Asn CAC>AAC
Allele 2:
 
Inheritance:
AD
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