Case
SR2055
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR2055
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 37 years
Fundus Photography - Right - 20/25 -1
Exemplar
Fundus Photography - Left - 20/25 -1
Exemplar
Fundus Montage - Right - 20/25 -1
Exemplar
Fundus Montage - Left - 20/25 -1
Exemplar
Goldmann Visual Field - Right - 20/25 -1
Exemplar
Goldmann Visual Field - Left - 20/25 -1
Exemplar
Optical Coherence Tomography - Right - 20/25 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -1
Exemplar
Infrared Fundus Photograph - Left - 20/25 -1
Exemplar
Visit at age: 38 years
Goldmann Visual Field - Right - 20/25 -1
Exemplar
Goldmann Visual Field - Left - 20/25
Exemplar
Optical Coherence Tomography - Right - 20/25 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -1
Exemplar
Infrared Fundus Photograph - Left - 20/25
Exemplar
Visit at age: 41 years
Goldmann Visual Field - Right - 20/25 -1
Exemplar
Goldmann Visual Field - Left - 20/25 -2
Exemplar
Optical Coherence Tomography - Right - 20/25 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -1
Exemplar
Infrared Fundus Photograph - Left - 20/25 -2
Exemplar
Visit at age: 47 years
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
Visit at age: 49 years
Fundus Photography - Right - 20/200 +1
Exemplar
Fundus Photography - Left - 20/100 +2
Exemplar
Goldmann Visual Field - Right - 20/200 +1
Exemplar
Goldmann Visual Field - Left - 20/100 +2
Exemplar
Optical Coherence Tomography - Right - 20/200 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 +1
Exemplar
Infrared Fundus Photograph - Left - 20/100 +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 |
Not Identified |
AR |
Allele 1:
Val256Val GTG>GTT