Case
SR481
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR481
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 72 years
Fundus Photography - Right - Light Perception
Exemplar
Fundus Photography - Left - Light Perception
Exemplar
Fundus Montage - Right - Light Perception
Exemplar
Fundus Montage - Left - Light Perception
Exemplar
Goldmann Visual Field - Right - Light Perception
Exemplar
Goldmann Visual Field - Left - Light Perception
Exemplar
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Ala1038Val GCC>GTC / Leu541Pro CTA>CCA | Ala1038Val GCC>GTC / Leu541Pro CTA>CCA | AR |
Disease:
Gene:
Allele 1:
Ala1038Val GCC>GTC / Leu541Pro CTA>CCA
Allele 2:
Ala1038Val GCC>GTC / Leu541Pro CTA>CCA
Inheritance:
AR