Case
SR1484
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR1484
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 43 years
Fundus Photography - Right - 10/200 sc
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Fundus Photography - Left - 10/200 sc
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Fundus Montage - Right - 10/200 sc
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Fundus Montage - Left - 10/200 sc
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Goldmann Visual Field - Right - 10/200 sc
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Goldmann Visual Field - Left - 10/200 sc
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Optical Coherence Tomography - Right - 10/200 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/200 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/200 sc
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Infrared Fundus Photograph - Left - 10/200 sc
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Visit at age: 44 years
Fundus Photography - Right - 20/300 sc
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Fundus Photography - Left - 20/300 sc
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Goldmann Visual Field - Right - 20/300 sc
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Goldmann Visual Field - Left - 20/300 sc
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Optical Coherence Tomography - Right - 20/300 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/300 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/300 sc
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Infrared Fundus Photograph - Left - 20/300 sc
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Visit at age: 46 years
Goldmann Visual Field - Right - 10/160 +1 sc
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Goldmann Visual Field - Left - 10/180 +1 sc
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Optical Coherence Tomography - Right - 10/160 +1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/180 +1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/160 +1 sc
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Infrared Fundus Photograph - Left - 10/180 +1 sc
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Visit at age: 50 years
Fundus Photography - Right - 20/300 sc
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Fundus Photography - Left - 20/700 sc
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Goldmann Visual Field - Right - 20/300 sc
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Goldmann Visual Field - Left - 20/700 sc
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Optical Coherence Tomography - Right - 20/300 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/700 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/300 sc
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Infrared Fundus Photograph - Left - 20/700 sc
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Blue Autofluorescence - Right - 20/300 sc
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Blue Autofluorescence - Left - 20/700 sc
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Visit at age: 54 years
Goldmann Visual Field - Right - 10/200 sc
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Goldmann Visual Field - Left - 10/250 sc
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Optical Coherence Tomography - Right - 10/200 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/250 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/200 sc
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Infrared Fundus Photograph - Left - 10/250 sc
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Trp339Gly TGG>GGG | Gly863Ala (G)GA>(G)CA / Arg572Gln CGA>CAA | AR |
Disease:
Gene:
Allele 1:
Trp339Gly TGG>GGG
Allele 2:
Gly863Ala (G)GA>(G)CA / Arg572Gln CGA>CAA
Inheritance:
AR