Case
SR558
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR558
Student Mode
AR Stargardt Disease (IIA)
Female
Female
History
This 43 year old woman was seen by a neuro ophthalmologist who was concerned that she might have a brain tumor because of bitemporal metamorphopsia.
Pedigree
| Age at visit: 60 years |
| Age at visit: 63 years |
| Age at visit: 66 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 67 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Asp645Asn GAT>AAT | Trp663Stop TGG>TAG | AR |
Disease:
Gene:
Allele 1:
Asp645Asn GAT>AAT
Allele 2:
Trp663Stop TGG>TAG
Inheritance:
AR