Case
SR650
Student Mode
Best Disease (IIB)
Male
Male
Hidden
SR650
Student Mode
Best Disease (IIB)
Male
Male
History
This 8 year old boy had fundus abnormalities noted on a routine eye exam at age six.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Gly222Val GGA>GTA | Gly222Val GGA>GTA | AR |
Disease:
Gene:
Allele 1:
Gly222Val GGA>GTA
Allele 2:
Gly222Val GGA>GTA
Inheritance:
AR