Case
SR493
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR493
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 59 years
Fundus Photography - Right - 20/25
Exemplar
Fundus Photography - Left - 20/25 -2
Exemplar
Fundus Montage - Right - 20/25
Exemplar
Fundus Montage - Left - 20/25 -2
Exemplar
Goldmann Visual Field - Right - 20/25
Exemplar
Goldmann Visual Field - Left - 20/25 -2
Exemplar
Optical Coherence Tomography - Right - 20/25
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25
Exemplar
Infrared Fundus Photograph - Left - 20/25 -2
Exemplar
Blue Autofluorescence - Right - 20/25
Exemplar
Blue Autofluorescence - Left - 20/25 -2
Exemplar
Visit at age: 60 years
Goldmann Visual Field - Right - 20/25
Exemplar
Goldmann Visual Field - Left - 20/32 -2
Exemplar
Optical Coherence Tomography - Right - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25
Exemplar
Infrared Fundus Photograph - Left - 20/32 -2
Exemplar
Blue Autofluorescence - Right - 20/25
Exemplar
Blue Autofluorescence - Left - 20/32 -2
Exemplar
Visit at age: 61 years
Goldmann Visual Field - Right - 20/40
Exemplar
Goldmann Visual Field - Left - 20/50
Exemplar
Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
Exemplar
Infrared Fundus Photograph - Left - 20/50
Exemplar
Visit at age: 62 years
Goldmann Visual Field - Right - 20/40 -1
Exemplar
Goldmann Visual Field - Left - 20/63 -1
Exemplar
Optical Coherence Tomography - Right - 20/40 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -1
Exemplar
Infrared Fundus Photograph - Left - 20/63 -1
Exemplar
Blue Autofluorescence - Right - 20/40 -1
Exemplar
Blue Autofluorescence - Left - 20/63 -1
Exemplar
Visit at age: 63 years
Goldmann Visual Field - Right - 20/50 -1
Exemplar
Goldmann Visual Field - Left - 20/160 -2
Exemplar
Optical Coherence Tomography - Right - 20/50 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 -1
Exemplar
Infrared Fundus Photograph - Left - 20/160 -2
Exemplar
Blue Autofluorescence - Right - 20/50 -1
Exemplar
Blue Autofluorescence - Left - 20/160 -2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
| AR Stargardt Disease |
ABCA4 |
Leu2027Phe CTC>TTC |
IVS30+1321 A>G |
AR |
Allele 1:
Leu2027Phe CTC>TTC
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
Clear Diagnosis