Case
SR625
Student Mode
Best Disease (IIB)
Male
Male
Hidden
SR625
Student Mode
Best Disease (IIB)
Male
Male
History
This 47 year old man first noticed some reduction in his visual acuity when he was 8 or 9 years of age.
Pedigree
| Age at visit: 70 years |
| Age at visit: 71 years |
| Age at visit: 71 years (Visit 2) |
| Age at visit: 72 years (Visit 2) |
| Age at visit: 73 years |
| OS | |||
|---|---|---|---|
| OS | |||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 74 years |
| Age at visit: 74 years (Visit 2) |
| Age at visit: 74 years (Visit 3) |
| Age at visit: 74 years (Visit 4) |
| Age at visit: 75 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Tyr227Asn TAC>AAC | AD |