Case
SR636
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR636
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 31 years
Fundus Photography - Right - 20/20 -3
Exemplar
Fundus Photography - Left - 20/50
Exemplar
Visit at age: 55 years
Fundus Photography - Right - 20/160 -1
Exemplar
Fundus Photography - Left - 20/125
Exemplar
Fundus Montage - Right - 20/160 -1
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Fundus Montage - Left - 20/125
Exemplar
Goldmann Visual Field - Right - 20/160 -1
Exemplar
Goldmann Visual Field - Left - 20/125
Exemplar
Optical Coherence Tomography - Right - 20/160 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160 -1
Exemplar
Infrared Fundus Photograph - Left - 20/125
Exemplar
Visit at age: 61 years
Goldmann Visual Field - Right - 20/125 -2
Exemplar
Goldmann Visual Field - Left - 20/125
Exemplar
Optical Coherence Tomography - Right - 20/125 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -2
Exemplar
Infrared Fundus Photograph - Left - 20/125
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Val256Val GTG>GTT | Gly1961Glu GGA>GAA | AR |
Disease:
Gene:
Allele 1:
Val256Val GTG>GTT
Allele 2:
Gly1961Glu GGA>GAA
Inheritance:
AR