Case
SR499
Student Mode
Best Disease (IIB)
Male
Male
Hidden
SR499
Student Mode
Best Disease (IIB)
Male
Male
Highlighted Images
| Age at visit: 21 years (Visit 2) | |
| OD | OS |
|---|---|
History
This 21 year old man was told about 1 year ago that the appearance of his retina was abnormal. A few weeks ago the visual acuity in his left eye worsened suddenly.
Pedigree
| Age at visit: 21 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 21 years (Visit 2) |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 21 years (Visit 3) |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 22 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 25 years |
| OD | OS | ||
|---|---|---|---|
| OD | |||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Asp228Glu GAC>GAG | AD |