Case
SR2598
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR2598
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 60 years
B-Scan Ultrasonography - Right - Light Perception
Exemplar
B-Scan Ultrasonography - Left - Light Perception
Exemplar
Visit at age: 60 years (Visit 2)
Fundus Photography - Left - Light Perception
Exemplar
Fundus Montage - Left - Light Perception
Exemplar
Optical Coherence Tomography - Right - Light Perception
Exemplar
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 62 years
Fundus Photography - Right - Light Perception sc
Exemplar
Fundus Photography - Left - Light Perception sc
Exemplar
Fundus Montage - Right - Light Perception sc
Exemplar
Fundus Montage - Left - Light Perception sc
Exemplar
Optical Coherence Tomography - Right - Light Perception sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception sc
Exemplar
Infrared Fundus Photograph - Left - Light Perception sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Gln636Stop CAG>TAG | His1406 del1caC | AR |
Disease:
Gene:
Allele 1:
Gln636Stop CAG>TAG
Allele 2:
His1406 del1caC
Inheritance:
AR