Case
SR1068
Student Mode
Best Disease (IIB)
Female
Female
Hidden
SR1068
Student Mode
Best Disease (IIB)
Female
Female
History
A 43 year old woman has noticed a dark spot in the central vision of her left eye.
Pedigree
| Age at visit: 19 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 37 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 37 years (Visit 2) |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 41 years |
| Age at visit: 41 years (Visit 2) |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 42 years |
| Age at visit: 43 years |
| Age at visit: 44 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Tyr227Asn TAC>AAC | AD |