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StoneRounds Disease Atlas SR193

SR193

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XL Choroideremia (IIIA1a)

Female

Female

SR193

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XL Choroideremia (IIIA1a)

Female

Female

Highlighted Images

Age at visit: 10 years
OD OS
20/25 +1
20/20 -1

History

Fundus abnormalities were seen in this 10 year old girl during a routine eye examination.

Pedigree

Age at visit: 10 years
Age at visit: 15 years

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:
CHM
Allele 1:
Duplication Exons 6-8
Allele 2:
 
Inheritance:
XL
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