Case
SR434
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR434
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 15 years
Fundus Photography - Right - 10/140 sc
Exemplar
Fundus Photography - Left - 10/200 sc
Exemplar
Fundus Montage - Right - 10/140 sc
Exemplar
Fundus Montage - Left - 10/200 sc
Exemplar
Goldmann Visual Field - Right - 10/140 sc
Exemplar
Goldmann Visual Field - Left - 10/200 sc
Exemplar
Optical Coherence Tomography - Right - 10/140 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/200 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/140 sc
Exemplar
Infrared Fundus Photograph - Left - 10/200 sc
Exemplar
Visit at age: 16 years
Goldmann Visual Field - Right - 10/160 -1 sc
Exemplar
Goldmann Visual Field - Left - 10/300 sc
Exemplar
Optical Coherence Tomography - Right - 10/160 -1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/300 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/160 -1 sc
Exemplar
Infrared Fundus Photograph - Left - 10/300 sc
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Blue Autofluorescence - Right - 10/160 -1 sc
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Blue Autofluorescence - Left - 10/300 sc
Exemplar
Visit at age: 19 years
Goldmann Visual Field - Right - 10/160 sc
Exemplar
Goldmann Visual Field - Left - 10/200 sc
Exemplar
Optical Coherence Tomography - Right - 10/160 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/200 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/160 sc
Exemplar
Infrared Fundus Photograph - Left - 10/200 sc
Exemplar
Visit at age: 23 years
Fundus Photography - Right - 10/200 sc
Exemplar
Fundus Photography - Left - 10/200 sc
Exemplar
Fundus Montage - Right - 10/200 sc
Exemplar
Fundus Montage - Left - 10/200 sc
Exemplar
Goldmann Visual Field - Right - 10/200 sc
Exemplar
Goldmann Visual Field - Left - 10/200 sc
Exemplar
Optical Coherence Tomography - Right - 10/200 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/200 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/200 sc
Exemplar
Infrared Fundus Photograph - Left - 10/200 sc
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 | His1118Asp CAC>GAC | AR |
Disease:
Gene:
Allele 1:
Val256Val GTG>GTT
Allele 2:
His1118Asp CAC>GAC
Inheritance:
AR