Case
SR1717
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR1717
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 18 years
Fundus Photography - Right - 5/60
Exemplar
Visit at age: 32 years
Fundus Photography - Right - <20/400 sc
Exemplar
Fundus Photography - Left - 20/300 sc
Exemplar
Visit at age: 36 years
Fundus Photography - Right - Hand Motion
Exemplar
Fundus Photography - Left - 1/400
Exemplar
Goldmann Visual Field - Right - Hand Motion
Exemplar
Goldmann Visual Field - Left - 1/400
Exemplar
Visit at age: 48 years
Fundus Photography - Right - Hand Motion 6"
Exemplar
Fundus Photography - Left - 20/2000 sc
Exemplar
Visit at age: 63 years
Fundus Photography - Left - Hand Motion
Exemplar
B-Scan Ultrasonography - Right - Light Perception
Exemplar
B-Scan Ultrasonography - Left - Hand Motion
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Pro1380Leu CCG>CTG | Val767Asp GTC>GAC | AR |
Disease:
Gene:
Allele 1:
Pro1380Leu CCG>CTG
Allele 2:
Val767Asp GTC>GAC
Inheritance:
AR