Case
SR2281
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR2281
Student Mode
AR Stargardt Disease (IIA)
Male
Male
History
This 39 year old man has no visual complaints but scattered white spots were recently seen in his retina on routine examination.
Pedigree
| Age at visit: 39 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | IVS30+1321 A>G | Gly1977Ser GGC>AGC | AR |
Disease:
Gene:
Allele 1:
IVS30+1321 A>G
Allele 2:
Gly1977Ser GGC>AGC
Inheritance:
AR