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StoneRounds Disease Atlas SR1092

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SR1092

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XL Choroideremia (IIIA1a)

Male

Male

SR1092

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XL Choroideremia (IIIA1a)

Male

Male

Visit at age: 33 years

Goldmann Visual Field - Right - 20/25 -2 sc

Exemplar

Goldmann Visual Field - Left - 20/20 -4 sc

Exemplar

Visit at age: 35 years

Fundus Photography - Right - 20/20

Exemplar

Fundus Photography - Left - 20/20

Exemplar

Goldmann Visual Field - Right - 20/20

Exemplar

Goldmann Visual Field - Left - 20/20

Exemplar

Visit at age: 37 years

Fundus Photography - Right - 20/30 -1

Exemplar

Fundus Photography - Left - 20/20 -2

Exemplar

Goldmann Visual Field - Right - 20/30 -1

Exemplar

Goldmann Visual Field - Left - 20/20 -2

Exemplar

Visit at age: 38 years

Goldmann Visual Field - Right - 20/20 -2

Exemplar

Goldmann Visual Field - Left - 20/20

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Choroideremia CHM Deletion Exons 9-11   XL
Disease:
XL Choroideremia
Gene:
CHM
Allele 1:
Deletion Exons 9-11
Allele 2:
 
Inheritance:
XL
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