Case
SR2374
Student Mode
Best Disease (IIB)
Male
Male
Hidden
SR2374
Student Mode
Best Disease (IIB)
Male
Male
History
This 57-year-old man had normal vision until his teens when he experienced a sudden loss of vision in the left eye which lasted for 3 or 4 months and then improved.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Tyr227Cys TAC>TGC | AD |