SR1733

XL Choroideremia (IIIA1a)

Male

Male

SR1733

XL Choroideremia (IIIA1a)

Male

Male

Highlighted Images

Age at visit: 21 years
OD OS

History

This 21 year old man first noticed some night blindness about 10 years ago. More recently he feels that his visual fields are a bit constricted.

Pedigree

Age at visit: 21 years
Age at visit: 22 years
Age at visit: 25 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Choroideremia CHM Gln448Stop CAA>TAA   XL
Disease:
Gene:
Allele 1:
Gln448Stop CAA>TAA
Allele 2:
 
Inheritance:
XL
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