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StoneRounds Disease Atlas SR42

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SR42

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Pattern Dystrophy (IIC)

Female

Female

SR42

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Pattern Dystrophy (IIC)

Female

Female

Visit at age: 38 years

Goldmann Visual Field - Right - 20/20 -1

Exemplar

Goldmann Visual Field - Left - 20/20 -1

Exemplar

Visit at age: 38 years (Visit 2)

Fundus Photography - Right - 20/25 -2

Exemplar

Fundus Photography - Left - 20/20 -1

Exemplar

Goldmann Visual Field - Right - 20/25 -2

Exemplar

Goldmann Visual Field - Left - 20/20 -1

Exemplar

Optical Coherence Tomography - Right - 20/25 -2

Exemplar / OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack

Infrared Fundus Photograph - Right - 20/25 -2

Exemplar

Infrared Fundus Photograph - Left - 20/20 -1

Exemplar

Visit at age: 44 years

Optical Coherence Tomography - Right - 20/20 -2 sc

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 sc

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -2 sc

Exemplar

Infrared Fundus Photograph - Left - 20/20 sc

Exemplar

Visit at age: 46 years

Optical Coherence Tomography - Right - 20/20 -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 - 20/20 -1 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 PRPH2 IVS2+3 A>T   AD
Disease:
Pattern Dystrophy
Gene:
PRPH2
Allele 1:
IVS2+3 A>T
Allele 2:
 
Inheritance:
AD
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