Case
SR2924
Student Mode
Best Disease (IIB)
Male
Male
Hidden
SR2924
Student Mode
Best Disease (IIB)
Male
Male
History
This 64 year old man has had poor vision in his left eye since childhood. In his 40's he started having blurry vision that could not be corrected with glasses.
Pedigree
| Age at visit: 64 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Ala195Val GCG>GTG | Arg255Trp CGG>TGG | AR |
Disease:
Gene:
Allele 1:
Ala195Val GCG>GTG
Allele 2:
Arg255Trp CGG>TGG
Inheritance:
AR