SR1483
AR Stargardt Disease (IIA)
Male
Male
SR1483
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 44 years
Fundus Photography - Right - Count Fingers 1' sc
Exemplar
Fundus Photography - Left - Count Fingers 1' sc
Exemplar
Fundus Montage - Right - Count Fingers 1' sc
Exemplar
Fundus Montage - Left - Count Fingers 1' sc
Exemplar
Goldmann Visual Field - Right - Count Fingers 1' sc
Exemplar
Goldmann Visual Field - Left - Count Fingers 1' sc
Exemplar
Optical Coherence Tomography - Right - Count Fingers 1' sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Count Fingers 1' sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Count Fingers 1' sc
Exemplar
Infrared Fundus Photograph - Left - Count Fingers 1' sc
Exemplar
Visit at age: 47 years
Goldmann Visual Field - Right - 10/120
Exemplar
Goldmann Visual Field - Left - 10/120
Exemplar
Optical Coherence Tomography - Right - 10/120
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/120
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/120
Exemplar
Infrared Fundus Photograph - Left - 10/120
Exemplar
Visit at age: 49 years
Goldmann Visual Field - Right - 10/300 sc
Exemplar
Goldmann Visual Field - Left - 10/300 sc
Exemplar
Optical Coherence Tomography - Right - 10/300 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 - 10/300 sc
Exemplar
Infrared Fundus Photograph - Left - 10/300 sc
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Blue Autofluorescence - Right - 10/300 sc
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Blue Autofluorescence - Left - 10/300 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | IVS40+5 G>A | Arg2077Trp CGG>TGG | AR |
Disease:
Gene:
Allele 1:
IVS40+5 G>A
Allele 2:
Arg2077Trp CGG>TGG
Inheritance:
AR