SR2133

Best Disease (IIB)

Female

Female

SR2133

Best Disease (IIB)

Female

Female

Highlighted Images

Age at visit: 43 years
OD OS

Age at visit: 34 years
Age at visit: 36 years
Age at visit: 37 years
Age at visit: 43 years
*Acuities for this visit are inferred from other visits in this case.

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Ala243Thr GCG>ACG   AD
Disease:
Gene:
Allele 1:
Ala243Thr GCG>ACG
Allele 2:
 
Inheritance:
AD
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