Case
SR282
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR282
Student Mode
AR Stargardt Disease (IIA)
Male
Male
History
This 38 year old man first had trouble reading at age 23.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Gly863Ala (G)GA>(G)CA | Arg1108Cys CGC>TGC | AR |
Disease:
Gene:
Allele 1:
Gly863Ala (G)GA>(G)CA
Allele 2:
Arg1108Cys CGC>TGC
Inheritance:
AR