Case
SR2167
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR2167
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 70 years
Fundus Photography - Right - 5/225 sc
Exemplar
Fundus Photography - Left - 5/100 sc
Exemplar
Fundus Montage - Right - 5/225 sc
Exemplar
Fundus Montage - Left - 5/100 sc
Exemplar
Goldmann Visual Field - Right - 5/225 sc
Exemplar
Goldmann Visual Field - Left - 5/100 sc
Exemplar
Optical Coherence Tomography - Right - 5/225 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 5/100 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 5/225 sc
Exemplar
Infrared Fundus Photograph - Left - 5/100 sc
Exemplar
Blue Autofluorescence - Right - 5/225 sc
Exemplar
Blue Autofluorescence - Left - 5/100 sc
Exemplar
Visit at age: 73 years
Goldmann Visual Field - Right - 10/200 sc
Exemplar
Goldmann Visual Field - Left - 10/180 sc
Exemplar
Optical Coherence Tomography - Right - 10/200 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/180 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/200 sc
Exemplar
Infrared Fundus Photograph - Left - 10/180 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Cys54Tyr (T)GC>(T)AC | IVS40+5 G>A | AR |
Disease:
Gene:
Allele 1:
Cys54Tyr (T)GC>(T)AC
Allele 2:
IVS40+5 G>A
Inheritance:
AR