Case
SR1467
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR1467
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 29 years
Fundus Photography - Right - 20/40 -2
Exemplar
Fundus Photography - Left - 20/40 -1
Exemplar
Goldmann Visual Field - Right - 20/40 -2
Exemplar
Goldmann Visual Field - Left - 20/40 -1
Exemplar
Case Level Images
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