Case
SR2015
Student Mode
Best Disease (IIB)
Female
Female
Hidden
SR2015
Student Mode
Best Disease (IIB)
Female
Female
History
This 62 year old woman had slightly subnormal acuity and mild fundus abnormalities discovered on a routine eye exam.
Pedigree
| Age at visit: 37 years |
| OD | |||
|---|---|---|---|
| Age at visit: 62 years |
| Age at visit: 83 years (Visit 2) |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Tyr227Asn TAC>AAC | AD |