Case
SR2157
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR2157
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 56 years
Fundus Photography - Right - 20/20
Exemplar
Fundus Photography - Left - 20/16
Exemplar
Fundus Montage - Right - 20/20
Exemplar
Fundus Montage - Left - 20/16
Exemplar
Goldmann Visual Field - Right - 20/20
Exemplar
Goldmann Visual Field - Left - 20/16
Exemplar
Optical Coherence Tomography - Right - 20/20
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/16
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20
Exemplar
Infrared Fundus Photograph - Left - 20/16
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Leu2027Phe CTC>TTC | IVS40+5 G>A | AR |
Disease:
Gene:
Allele 1:
Leu2027Phe CTC>TTC
Allele 2:
IVS40+5 G>A
Inheritance:
AR