Case
SR1767
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR1767
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 17 years
Goldmann Visual Field - Right - 20/160 +2
Exemplar
Goldmann Visual Field - Left - 20/125 -2
Exemplar
Visit at age: 18 years
Fundus Photography - Right - 20/125 -1
Exemplar
Fundus Photography - Left - 20/150
Exemplar
Fundus Montage - Right - 20/125 -1
Exemplar
Fundus Montage - Left - 20/150
Exemplar
Optical Coherence Tomography - Right - 20/125 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/150
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -1
Exemplar
Infrared Fundus Photograph - Left - 20/150
Exemplar
Blue Autofluorescence - Right - 20/125 -1
Exemplar
Blue Autofluorescence - Left - 20/150
Exemplar
Visit at age: 19 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
Blue Autofluorescence - Right - 20/160 +2
Exemplar
Blue Autofluorescence - Left - 20/160 +1
Exemplar
Visit at age: 22 years
Fundus Photography - Right - 20/125 -1
Exemplar
Fundus Photography - Left - 20/150
Exemplar
Fundus Montage - Right - 20/125 -1
Exemplar
Fundus Montage - Left - 20/150
Exemplar
Goldmann Visual Field - Right - 20/125 -1
Exemplar
Goldmann Visual Field - Left - 20/150
Exemplar
Optical Coherence Tomography - Right - 20/125 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/150
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -1
Exemplar
Infrared Fundus Photograph - Left - 20/150
Exemplar
Blue Autofluorescence - Right - 20/125 -1
Exemplar
Blue Autofluorescence - Left - 20/150
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
| AR Stargardt Disease |
ABCA4 |
Ala1038Val GCC>GTC |
Lys1182 del1aaG |
AR |
Allele 1:
Ala1038Val GCC>GTC
Allele 2:
Lys1182 del1aaG
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
Clear Diagnosis