Case
SR386
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR386
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 52 years
Fundus Photography - Right - 20/200 +1 sc
Exemplar
Fundus Photography - Left - 20/200 +1 sc
Exemplar
Fundus Montage - Right - 20/200 +1 sc
Exemplar
Fundus Montage - Left - 20/200 +1 sc
Exemplar
Goldmann Visual Field - Right - 20/200 +1 sc
Exemplar
Goldmann Visual Field - Left - 20/200 +1 sc
Exemplar
Optical Coherence Tomography - Right - 20/200 +1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200 +1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 +1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/200 +1 sc
Exemplar
Visit at age: 54 years
Goldmann Visual Field - Right - 20/200 +1 sc
Exemplar
Goldmann Visual Field - Left - 20/200 +1 sc
Exemplar
Optical Coherence Tomography - Right - 20/200 +1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200 +1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 +1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/200 +1 sc
Exemplar
Visit at age: 57 years
Goldmann Visual Field - Right - 10/125 sc
Exemplar
Goldmann Visual Field - Left - 10/125 +1 sc
Exemplar
Optical Coherence Tomography - Right - 10/125 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/125 +1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/125 sc
Exemplar
Infrared Fundus Photograph - Left - 10/125 +1 sc
Exemplar
Blue Autofluorescence - Right - 10/125 sc
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Blue Autofluorescence - Left - 10/125 +1 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Cys205Phe TGC>TTC | Gly863Ala (G)GA>(G)CA | AR |
Disease:
Gene:
Allele 1:
Cys205Phe TGC>TTC
Allele 2:
Gly863Ala (G)GA>(G)CA
Inheritance:
AR