Case
SR699
Student Mode
Best Disease (IIB)
Male
Male
Hidden
SR699
Student Mode
Best Disease (IIB)
Male
Male
Highlighted Images
| Age at visit: 18 years | OD | OS |
|---|---|
History
This 18 year old male had retinal abnormalities noticed incidentally when he was five years old. His refraction was +4.25 OU at age 5.
Pedigree
| Age at visit: 5 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 14 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 18 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Best Disease | BEST1 | Tyr227Asn TAC>AAC | AD |