Case
SR1811
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR1811
Student Mode
AR Stargardt Disease (IIA)
Female
Female
History
This 18 year old woman first noticed some difficulty seeing the blackboard when she was 15 years old.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Arg1108Cys CGC>TGC | Val2114Val GTG>GTA | AR |
Disease:
Gene:
Allele 1:
Arg1108Cys CGC>TGC
Allele 2:
Val2114Val GTG>GTA
Inheritance:
AR