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StoneRounds Disease Atlas SR1702

SR1702

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Pseudoxanthoma Elasticum (IID2)

Male

Male

SR1702

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Pseudoxanthoma Elasticum (IID2)

Male

Male

Visit at age: 45 years

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OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 46 years

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OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 47 years

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Exemplar / OCT Stack
OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 48 years

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OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 49 years

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Optical Coherence Tomography - Right - 20/200 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 50 years

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Goldmann Visual Field - Left - 20/25 +1

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Optical Coherence Tomography - Right - 20/160 +1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 +1

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OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/160 +1

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Visit at age: 51 years

Optical Coherence Tomography - Right - 20/160 -2

Exemplar / OCT Stack
OCT Stack

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OCT Stack

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Pseudoxanthoma Elasticum ABCC6 Arg1141Stop CGA>TGA Arg1141Stop CGA>TGA AR
Disease:
Pseudoxanthoma Elasticum
Gene:
ABCC6
Allele 1:
Arg1141Stop CGA>TGA
Allele 2:
Arg1141Stop CGA>TGA
Inheritance:
AR
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