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SR193

XL Choroideremia (IIIA1a)

Female

Female

SR193

XL Choroideremia (IIIA1a)

Female

Female

Visit at age: 10 years

Fundus Photography - Right - 20/25 +1

Exemplar

Fundus Photography - Left - 20/20 -1

Exemplar

Fundus Montage - Right - 20/25 +1

Exemplar

Fundus Montage - Left - 20/20 -1

Exemplar

Goldmann Visual Field - Right - 20/25 +1

Exemplar

Goldmann Visual Field - Left - 20/20 -1

Exemplar

Visit at age: 15 years

Fundus Photography - Right - 20/25 +1

Exemplar

Fundus Photography - Left - 20/20 -2

Exemplar

Fundus Montage - Right - 20/25 +1

Exemplar

Fundus Montage - Left - 20/20 -2

Exemplar

Goldmann Visual Field - Right - 20/25 +1

Exemplar

Goldmann Visual Field - Left - 20/20 -2

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease	Gene	Allele 1 variant(s)	Allele 2 variant(s)	Inheritance mode
XL Choroideremia	CHM	Duplication Exons 6-8		XL

Disease:

XL Choroideremia

Gene:

Allele 1:

Duplication Exons 6-8

Allele 2:

Inheritance:

XL

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