Case
SR2739
Student Mode
Pattern Dystrophy (IIC)
Male
Male
Hidden
SR2739
Student Mode
Pattern Dystrophy (IIC)
Male
Male
Highlighted Images
| Age at visit: 38 years | |
| OD | OS |
|---|---|
History
This 38 year old man first noted blurry vision in his left eye about 6 months ago while sighting a rifle while hunting.
Pedigree
| Age at visit: 38 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Pattern Dystrophy | CTNNA1 | Thr325Arg ACG>AGG | AD |