Case
SR494
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR494
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 38 years
Fundus Photography - Right - 20/32
Exemplar
Fundus Photography - Left - 20/16
Exemplar
Goldmann Visual Field - Right - 20/32
Exemplar
Goldmann Visual Field - Left - 20/16
Exemplar
Optical Coherence Tomography - Right - 20/32
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/16
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32
Exemplar
Infrared Fundus Photograph - Left - 20/16
Exemplar
Visit at age: 38 years (Visit 2)
Optical Coherence Tomography - Right - 20/20
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20
Exemplar
Visit at age: 38 years (Visit 3)
Optical Coherence Tomography - Right - 20/15
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/15
Exemplar
Visit at age: 38 years (Visit 4)
Optical Coherence Tomography - Right - 20/15
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/15
Exemplar
Visit at age: 38 years (Visit 5)
Optical Coherence Tomography - Right - 20/15
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/15
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/15
Exemplar
Infrared Fundus Photograph - Left - 20/15
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Gly863Ala (G)GA>(G)CA / Arg2030Stop CGA>TGA | Ala1038Val GCC>GTC | AR |
Disease:
Gene:
Allele 1:
Gly863Ala (G)GA>(G)CA / Arg2030Stop CGA>TGA
Allele 2:
Ala1038Val GCC>GTC
Inheritance:
AR