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StoneRounds Disease Atlas SR1073

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SR1073

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XL Choroideremia (IIIA1a)

Male

Male

SR1073

Ladder View Download View

XL Choroideremia (IIIA1a)

Male

Male

Visit at age: 14 years

Fundus Photography - Right - 20/30 +2 sc

Exemplar

Fundus Photography - Left - 20/20 -1 sc

Exemplar

Goldmann Visual Field - Right - 20/30 +2 sc

Exemplar

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

Exemplar

Visit at age: 28 years

Fundus Photography - Right - 20/25 -2

Exemplar

Fundus Photography - Left - 20/32

Exemplar

Fundus Montage - Right - 20/25 -2

Exemplar

Fundus Montage - Left - 20/32

Exemplar

Goldmann Visual Field - Right - 20/25 -2

Exemplar

Goldmann Visual Field - Left - 20/32

Exemplar

Optical Coherence Tomography - Right - 20/25 -2

Exemplar / OCT Stack
OCT Stack

Optical Coherence Tomography - Left - 20/32

Exemplar / OCT Stack
OCT Stack

Infrared Fundus Photograph - Right - 20/25 -2

Exemplar

Infrared Fundus Photograph - Left - 20/32

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Choroideremia CHM Deletion Exons 9-15   XL
Disease:
XL Choroideremia
Gene:
CHM
Allele 1:
Deletion Exons 9-15
Allele 2:
 
Inheritance:
XL
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