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StoneRounds Disease Atlas SR1202

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SR1202

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XL Choroideremia (IIIA1a)

Male

Male

SR1202

Ladder View Download View

XL Choroideremia (IIIA1a)

Male

Male

Visit at age: 33 years

Fundus Photography - Right - 20/40 -2

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Fundus Photography - Left - 20/25 +2

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Fundus Montage - Right - 20/40 -2

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Fundus Montage - Left - 20/25 +2

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Goldmann Visual Field - Right - 20/40 -2

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Goldmann Visual Field - Left - 20/25 +2

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Optical Coherence Tomography - Right - 20/40 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/40 -2

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Infrared Fundus Photograph - Left - 20/25 +2

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Visit at age: 34 years

Goldmann Visual Field - Right - 20/100 -2

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Goldmann Visual Field - Left - 20/20 -1

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Optical Coherence Tomography - Right - 20/100 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/20 -1

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/100 -2

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Infrared Fundus Photograph - Left - 20/20 -1

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Visit at age: 35 years

Goldmann Visual Field - Right - 20/160 -2

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Goldmann Visual Field - Left - 20/25 +2

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Optical Coherence Tomography - Right - 20/160 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 +2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/160 -2

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Infrared Fundus Photograph - Left - 20/25 +2

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Visit at age: 38 years

Fundus Photography - Right - 5/300

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Fundus Photography - Left - 20/25 -2

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Fundus Montage - Right - 5/300

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Fundus Montage - Left - 20/25 -2

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Goldmann Visual Field - Right - 5/300

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Goldmann Visual Field - Left - 20/25 -2

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Optical Coherence Tomography - Right - 5/300

Exemplar / OCT Stack
OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -2

Exemplar / OCT Stack
OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 5/300

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Infrared Fundus Photograph - Left - 20/25 -2

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Visit at age: 39 years

Optical Coherence Tomography - Right - 5/350

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/25 -2

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 5/350

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Infrared Fundus Photograph - Left - 20/25 -2

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Choroideremia CHM Deletion Exon 12   XL
Disease:
XL Choroideremia
Gene:
CHM
Allele 1:
Deletion Exon 12
Allele 2:
 
Inheritance:
XL
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