Case
SR2062
Student Mode
Pattern Dystrophy (IIC)
Female
Female
Hidden
SR2062
Student Mode
Pattern Dystrophy (IIC)
Female
Female
Highlighted Images
| Age at visit: 42 years | |
| OD | OS |
|---|---|
History
This 42 year old asymptomatic woman presents for advice regarding a macular abnormality found on a routine eye exam.
Pedigree
| Age at visit: 42 years |
| 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 | PRPH2 | Tyr141Cys TAC>TGC | AD |