Case
SR2055
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR2055
Student Mode
AR Stargardt Disease (IIA)
Female
Female
History
This 37 year old woman has had some difficulty reading for the past two years. She also has new sensitivity to bright light.
Pedigree
| Age at visit: 37 years |
| Age at visit: 38 years |
| Age at visit: 41 years |
| Age at visit: 47 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Val256Val GTG>GTT | Not Identified | AR |
Disease:
Gene:
Allele 1:
Val256Val GTG>GTT
Allele 2:
Not Identified
Inheritance:
AR