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StoneRounds Disease Atlas SR647

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SR647

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Heimler Syndrome (IB8a)

Male

Male

SR647

Ladder View Download View

Heimler Syndrome (IB8a)

Male

Male

Visit at age: 12 years

Fundus Photography - Right - 20/20 -2 sc

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Fundus Photography - Left - 20/25 -2

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Fundus Montage - Right - 20/20 -2 sc

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Fundus Montage - Left - 20/25 -2

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Goldmann Visual Field - Right - 20/20 -2 sc

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Goldmann Visual Field - Left - 20/25 -2

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

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -2

Exemplar / OCT Stack
OCT Stack

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

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Infrared Fundus Photograph - Left - 20/25 -2

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Dental Photos - N/A

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Visit at age: 13 years

Goldmann Visual Field - Right - 20/20 -1

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Goldmann Visual Field - Left - 20/25

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Optical Coherence Tomography - Right - 20/20 -1

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -1

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Infrared Fundus Photograph - Left - 20/25

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Visit at age: 15 years

Goldmann Visual Field - Right - 20/20 -1

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Goldmann Visual Field - Left - 20/20 -2

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Optical Coherence Tomography - Right - 20/20 -1

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20 -1

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Infrared Fundus Photograph - Left - 20/20 -2

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Visit at age: 17 years

Goldmann Visual Field - Right - 20/20

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Goldmann Visual Field - Left - 20/25

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Optical Coherence Tomography - Right - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/20

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Infrared Fundus Photograph - Left - 20/25

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Visit at age: 21 years

Goldmann Visual Field - Right - 20/16 -2

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Goldmann Visual Field - Left - 20/20

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Optical Coherence Tomography - Right - 20/16 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/16 -2

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Infrared Fundus Photograph - Left - 20/20

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Heimler Syndrome PEX6 Trp249Arg TGG>AGG Arg601Trp CGG>TGG AR
Disease:
Heimler Syndrome
Gene:
PEX6
Allele 1:
Trp249Arg TGG>AGG
Allele 2:
Arg601Trp CGG>TGG
Inheritance:
AR
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