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StoneRounds Disease Atlas SR1400

SR1400

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Choroideremia (IIIA1)

Female

Female

SR1400

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Choroideremia (IIIA1)

Female

Female

Highlighted Images

Age at visit: 8 years
OD OS
20/30 +3
20/20 -3

History

This eight-year-old girl has anisometropic amblyopia. Fundus abnormalities were noticed incidentally during investigation of the amblyopia.

Pedigree

Age at visit: 8 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Choroideremia CHM Ser7 del12tcGGAGTTTGATGT   XL
Disease:
Choroideremia
Gene:
CHM
Allele 1:
Ser7 del12tcGGAGTTTGATGT
Allele 2:
 
Inheritance:
XL
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