Case
SR1514
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR1514
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 29 years
Fundus Photography - Right - 20/125
Exemplar
Fundus Photography - Left - 20/160
Exemplar
Visit at age: 32 years
Goldmann Visual Field - Right - 20/300
Exemplar
Goldmann Visual Field - Left - 20/200
Exemplar
Visit at age: 47 years
Fundus Photography - Right - 10/300
Exemplar
Fundus Photography - Left - 20/200
Exemplar
Goldmann Visual Field - Right - 10/300
Exemplar
Goldmann Visual Field - Left - 20/200
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Arg1108His CGC>CAC | Pro1380Leu CCG>CTG | AR |
Disease:
Gene:
Allele 1:
Arg1108His CGC>CAC
Allele 2:
Pro1380Leu CCG>CTG
Inheritance:
AR