Case
SR184
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR184
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 5 years
Goldmann Visual Field - Right - 20/160 +1 sc
Exemplar
Visit at age: 6 years
Fundus Photography - Right - 20/100
Exemplar
Fundus Photography - Left - 20/100 -1
Exemplar
Visit at age: 7 years
Goldmann Visual Field - Right - 20/160
Exemplar
Goldmann Visual Field - Left - 20/160
Exemplar
Visit at age: 8 years
Goldmann Visual Field - Right - 20/160
Exemplar
Goldmann Visual Field - Left - 20/200
Exemplar
Visit at age: 9 years
Fundus Photography - Right - 10/200
Exemplar
Fundus Photography - Left - 10/160 -1
Exemplar
Optical Coherence Tomography - Right - 10/200
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 10/160 -1
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 10/200
Exemplar
Infrared Fundus Photograph - Left - 10/160 -1
Exemplar
Visit at age: 11 years
Goldmann Visual Field - Right - 20/500
Exemplar
Goldmann Visual Field - Left - 20/250
Exemplar
Optical Coherence Tomography - Right - 20/500
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/250
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/500
Exemplar
Infrared Fundus Photograph - Left - 20/250
Exemplar
Visit at age: 12 years
Goldmann Visual Field - Right - 5/225
Exemplar
Goldmann Visual Field - Left - 10/125
Exemplar
Visit at age: 13 years
Fundus Photography - Right - 10/350
Exemplar
Fundus Photography - Left - 10/140
Exemplar
Fundus Montage - Right - 10/350
Exemplar
Fundus Montage - Left - 10/140
Exemplar
Goldmann Visual Field - Right - 10/350
Exemplar
Goldmann Visual Field - Left - 10/140
Exemplar
Optical Coherence Tomography - Right - 10/350
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/140
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/350
Exemplar
Infrared Fundus Photograph - Left - 10/140
Exemplar
Blue Autofluorescence - Right - 10/350
Exemplar
Blue Autofluorescence - Left - 10/140
Exemplar
Visit at age: 14 years
Goldmann Visual Field - Right - 5/200 sc
Exemplar
Goldmann Visual Field - Left - 5/100 sc
Exemplar
Optical Coherence Tomography - Right - 5/200 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 5/100 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 5/200 sc
Exemplar
Infrared Fundus Photograph - Left - 5/100 sc
Exemplar
Blue Autofluorescence - Right - 5/200 sc
Exemplar
Blue Autofluorescence - Left - 5/100 sc
Exemplar
Visit at age: 17 years
Goldmann Visual Field - Right - 10/600 sc
Exemplar
Goldmann Visual Field - Left - 10/400 sc
Exemplar
Optical Coherence Tomography - Right - 10/600 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/400 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/600 sc
Exemplar
Infrared Fundus Photograph - Left - 10/400 sc
Exemplar
Blue Autofluorescence - Right - 10/600 sc
Exemplar
Blue Autofluorescence - Left - 10/400 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | IVS9+1 G>A | IVS37+1 G>A | AR |
Disease:
Gene:
Allele 1:
IVS9+1 G>A
Allele 2:
IVS37+1 G>A
Inheritance:
AR