SR2666

AD Choroideremia (IIIA1b)

Male

Male

SR2666

AD Choroideremia (IIIA1b)

Male

Male

Highlighted Images

Age at visit: 65 years
OD OS

History

This 65 year old man first experienced nyctalopia and constriction of his visual fields in his 40's. There is a family history of retinitis pigmentosa in his father and a niece.

Pedigree

Age at visit: 65 years
Age at visit: 67 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
AD Choroideremia RPE65 Asp477Gly GAT>GGT   AD
Disease:
Gene:
Allele 1:
Asp477Gly GAT>GGT
Allele 2:
 
Inheritance:
AD
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