SR495

Best Disease (IIB)

Male

Male

SR495

Best Disease (IIB)

Male

Male

Highlighted Images

Age at visit: 68 years
OD OS

History

This 68 year old man first experienced loss of some central vision in his left eye at age 56. Vision in his right eye was affected about six years later.

Pedigree

Age at visit: 68 years
Age at visit: 69 years
Age at visit: 71 years
Age at visit: 73 years
Age at visit: 75 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Lys30Arg AAG>AGG   AD
Disease:
Gene:
Allele 1:
Lys30Arg AAG>AGG
Allele 2:
 
Inheritance:
AD
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