Case
SR434
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR434
Student Mode
AR Stargardt Disease (IIA)
Female
Female
History
This 15 year old female recalls not being able to see the black board in 2nd grade despite sitting in the 2nd row.
Pedigree
| Age at visit: 15 years |
| Age at visit: 16 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 19 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Val256Val GTG>GTT | His1118Asp CAC>GAC | AR |
Disease:
Gene:
Allele 1:
Val256Val GTG>GTT
Allele 2:
His1118Asp CAC>GAC
Inheritance:
AR