Case
SR1922
Student Mode
Best Disease (IIB)
Female
Female
Hidden
SR1922
Student Mode
Best Disease (IIB)
Female
Female
History
This 12 year old female needed spectacles for hyperopia when she was 9 months old, but her acuity seemed to be normal with this correction. Some abnormal spots on her retina were seen at age 2.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Leu134Val CTG>GTG | Gly286Ser GGC>AGC | AR |
Disease:
Gene:
Allele 1:
Leu134Val CTG>GTG
Allele 2:
Gly286Ser GGC>AGC
Inheritance:
AR