Case
SR2186
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR2186
Student Mode
AR Stargardt Disease (IIA)
Female
Female
History
This 35 year old woman has recently noticed a reduction in her visual acuity in both eyes.
Pedigree
| Age at visit: 70 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 |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Trp1408Arg TGG>CGG | Gly1961Glu GGA>GAA | AR |
Disease:
Gene:
Allele 1:
Trp1408Arg TGG>CGG
Allele 2:
Gly1961Glu GGA>GAA
Inheritance:
AR