Case
SR2161
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR2161
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 16 years
Fundus Photography - Right - 20/50 -2
Exemplar
Fundus Photography - Left - 20/50 -1
Exemplar
Fundus Montage - Right - 20/50 -2
Exemplar
Fundus Montage - Left - 20/50 -1
Exemplar
Goldmann Visual Field - Right - 20/50 -2
Exemplar
Goldmann Visual Field - Left - 20/50 -1
Exemplar
Optical Coherence Tomography - Right - 20/50 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 -2
Exemplar
Infrared Fundus Photograph - Left - 20/50 -1
Exemplar
Blue Autofluorescence - Right - 20/50 -2
Exemplar
Blue Autofluorescence - Left - 20/50 -1
Exemplar
Visit at age: 17 years
Fundus Photography - Right - 20/40 -2
Exemplar
Fundus Photography - Left - 20/40
Exemplar
Goldmann Visual Field - Right - 20/40 -2
Exemplar
Goldmann Visual Field - Left - 20/40
Exemplar
Optical Coherence Tomography - Right - 20/40 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -2
Exemplar
Infrared Fundus Photograph - Left - 20/40
Exemplar
Blue Autofluorescence - Right - 20/40 -2
Exemplar
Blue Autofluorescence - Left - 20/40
Exemplar
Visit at age: 18 years
Goldmann Visual Field - Right - 20/63 -2 sc
Exemplar
Goldmann Visual Field - Left - 20/50 -2 sc
Exemplar
Optical Coherence Tomography - Right - 20/63 -2 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 -2 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/50 -2 sc
Exemplar
Blue Autofluorescence - Right - 20/63 -2 sc
Exemplar
Blue Autofluorescence - Left - 20/50 -2 sc
Exemplar
Visit at age: 22 years
Fundus Photography - Right - 20/80 -1
Exemplar
Fundus Photography - Left - 20/80 -2
Exemplar
Goldmann Visual Field - Right - 20/80 -1
Exemplar
Goldmann Visual Field - Left - 20/80 -2
Exemplar
Optical Coherence Tomography - Right - 20/80 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80 -1
Exemplar
Infrared Fundus Photograph - Left - 20/80 -2
Exemplar
Blue Autofluorescence - Right - 20/80 -1
Exemplar
Blue Autofluorescence - Left - 20/80 -2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
| AR Stargardt Disease |
ABCA4 |
Val256Val GTG>GTT |
Gly1961Glu GGA>GAA |
AR |
Allele 1:
Val256Val GTG>GTT
Allele 2:
Gly1961Glu GGA>GAA
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
Clear Diagnosis