Case
SR474
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR474
Student Mode
AR Stargardt Disease (IIA)
Female
Female
History
This 11 year old female first had difficulty seeing the blackboard at age 8. Later, she developed some photophobia.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Gly1961Glu GGA>GAA, Arg212Cys CGC>TGC | Gly1961Glu GGA>GAA, Arg212Cys CGC>TGC | AR |
Disease:
Gene:
Allele 1:
Gly1961Glu GGA>GAA, Arg212Cys CGC>TGC
Allele 2:
Gly1961Glu GGA>GAA, Arg212Cys CGC>TGC
Inheritance:
AR