Case
SR2574
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR2574
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 53 years
Fundus Photography - Right - 20/200 +2
Exemplar
Fundus Photography - Left - 20/50 -1
Exemplar
Fundus Montage - Right - 20/200 +2
Exemplar
Fundus Montage - Left - 20/50 -1
Exemplar
Goldmann Visual Field - Right - 20/200 +2
Exemplar
Goldmann Visual Field - Left - 20/50 -1
Exemplar
Optical Coherence Tomography - Right - 20/200 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 +2
Exemplar
Infrared Fundus Photograph - Left - 20/50 -1
Exemplar
Blue Autofluorescence - Right - 20/200 +2
Exemplar
Blue Autofluorescence - Left - 20/50 -1
Exemplar
Visit at age: 54 years
Goldmann Visual Field - Right - 20/160 -2
Exemplar
Goldmann Visual Field - Left - 20/160 +1
Exemplar
Optical Coherence Tomography - Right - 20/160 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160 -2
Exemplar
Infrared Fundus Photograph - Left - 20/160 +1
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 |
Gly1961Glu GGA>GAA |
AR |
Allele 2:
Gly1961Glu GGA>GAA
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
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