Case
SR2591
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR2591
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 62 years
Fundus Photography - Right - 10/600 sc
Exemplar
Fundus Photography - Left - 10/600 sc
Exemplar
Goldmann Visual Field - Right - 10/600 sc
Exemplar
Goldmann Visual Field - Left - 10/600 sc
Exemplar
Optical Coherence Tomography - Right - 10/600 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/600 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/600 sc
Exemplar
Infrared Fundus Photograph - Left - 10/600 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Trp431Stop TGG>TGA | Thr1526Met ACG>ATG | AR |
Disease:
Gene:
Allele 1:
Trp431Stop TGG>TGA
Allele 2:
Thr1526Met ACG>ATG
Inheritance:
AR