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StoneRounds Disease Atlas SR2739

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SR2739

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Pattern Dystrophy (IIC)

Male

Male

SR2739

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Pattern Dystrophy (IIC)

Male

Male

Visit at age: 38 years

Fundus Photography - Right - 20/16 -1 sc

Exemplar

Fundus Photography - Left - 20/20 -1 sc

Exemplar

Fundus Montage - Right - 20/16 -1 sc

Exemplar

Fundus Montage - Left - 20/20 -1 sc

Exemplar

Goldmann Visual Field - Right - 20/16 -1 sc

Exemplar

Goldmann Visual Field - Left - 20/20 -1 sc

Exemplar

Optical Coherence Tomography - Right - 20/16 -1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -1 sc

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/16 -1 sc

Exemplar

Infrared Fundus Photograph - Left - 20/20 -1 sc

Exemplar

Blue Autofluorescence - Right - 20/16 -1 sc

Exemplar

Blue Autofluorescence - Left - 20/20 -1 sc

Exemplar

Visit at age: 39 years

Optical Coherence Tomography - Right - 20/16 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -1 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/16 sc

Exemplar

Infrared Fundus Photograph - Left - 20/20 -1 sc

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Pattern Dystrophy CTNNA1 Thr325Arg ACG>AGG   AD
Disease:
Pattern Dystrophy
Gene:
CTNNA1
Allele 1:
Thr325Arg ACG>AGG
Allele 2:
 
Inheritance:
AD
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