Case
SR2281
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR2281
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 39 years
Fundus Photography - Right - 20/15
Exemplar
Fundus Photography - Left - 20/20 -3
Exemplar
Fundus Montage - Right - 20/15
Exemplar
Fundus Montage - Left - 20/20 -3
Exemplar
Goldmann Visual Field - Right - 20/15
Exemplar
Goldmann Visual Field - Left - 20/20 -3
Exemplar
Optical Coherence Tomography - Right - 20/15
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -3
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/15
Exemplar
Infrared Fundus Photograph - Left - 20/20 -3
Exemplar
Blue Autofluorescence - Right - 20/15
Exemplar
Blue Autofluorescence - Left - 20/20 -3
Exemplar
Visit at age: 40 years
Goldmann Visual Field - Right - 20/20 -2
Exemplar
Goldmann Visual Field - Left - 20/25
Exemplar
Optical Coherence Tomography - Right - 20/20 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -2
Exemplar
Infrared Fundus Photograph - Left - 20/25
Exemplar
Blue Autofluorescence - Right - 20/20 -2
Exemplar
Blue Autofluorescence - Left - 20/25
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | IVS30+1321 A>G | Gly1977Ser GGC>AGC | AR |
Disease:
Gene:
Allele 1:
IVS30+1321 A>G
Allele 2:
Gly1977Ser GGC>AGC
Inheritance:
AR