Case
SR1467
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR1467
Student Mode
AR Stargardt Disease (IIA)
Male
Male
History
This 29 year old man first noticed some difficulty with his central vision eight years earlier. More recently he has been experiencing some photophobia.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Leu1201Arg CTG>CGG | Val256Val GTG>GTT | AR |
Disease:
Gene:
Allele 1:
Leu1201Arg CTG>CGG
Allele 2:
Val256Val GTG>GTT
Inheritance:
AR