Case
SR2695
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR2695
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 5 years
Optical Coherence Tomography - Right - 20/25 +1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 +1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 +1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/25 +1 sc
Exemplar
Visit at age: 7 years
Optical Coherence Tomography - Right - 20/25
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 +2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25
Exemplar
Infrared Fundus Photograph - Left - 20/40 +2
Exemplar
Visit at age: 8 years
Goldmann Visual Field - Right - 20/30 sc
Exemplar
Goldmann Visual Field - Left - 20/40 +2 sc
Exemplar
Optical Coherence Tomography - Right - 20/30 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 +2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/30 sc
Exemplar
Infrared Fundus Photograph - Left - 20/40 +2 sc
Exemplar
Visit at age: 9 years
Goldmann Visual Field - Right - 20/40 sc
Exemplar
Goldmann Visual Field - Left - 20/40 +1 sc
Exemplar
Optical Coherence Tomography - Right - 20/40 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 +1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 sc
Exemplar
Infrared Fundus Photograph - Left - 20/40 +1 sc
Exemplar
Blue Autofluorescence - Right - 20/40 sc
Exemplar
Blue Autofluorescence - Left - 20/40 +1 sc
Exemplar
Visit at age: 10 years
Fundus Photography - Right - 20/50 +1 sc
Exemplar
Fundus Photography - Left - 20/40 -2 sc
Exemplar
Optical Coherence Tomography - Right - 20/50 +1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 -2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 +1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/40 -2 sc
Exemplar
Blue Autofluorescence - Right - 20/50 +1 sc
Exemplar
Blue Autofluorescence - Left - 20/40 -2 sc
Exemplar
Visit at age: 11 years
Goldmann Visual Field - Right - 20/40 -1
Exemplar
Goldmann Visual Field - Left - 20/40 -2
Exemplar
Optical Coherence Tomography - Right - 20/40 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -1
Exemplar
Infrared Fundus Photograph - Left - 20/40 -2
Exemplar
Visit at age: 13 years
Goldmann Visual Field - Right - 20/200 +2
Exemplar
Goldmann Visual Field - Left - 20/160 -2
Exemplar
Optical Coherence Tomography - Right - 20/200 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 +2
Exemplar
Infrared Fundus Photograph - Left - 20/160 -2
Exemplar
Blue Autofluorescence - Right - 20/200 +2
Exemplar
Blue Autofluorescence - Left - 20/160 -2
Exemplar
Visit at age: 14 years
Optical Coherence Tomography - Right - 10/100 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/100 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/100 -1
Exemplar
Infrared Fundus Photograph - Left - 10/100 +2
Exemplar
Blue Autofluorescence - Right - 10/100 -1
Exemplar
Blue Autofluorescence - Left - 10/100 +2
Exemplar
Case Level Images
Diagnosis & molecular findings
Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
AR Stargardt Disease |
ABCA4 |
IVS21-2 A>G |
Pro1380Leu CCG>CTG |
AR |
Allele 2:
Pro1380Leu CCG>CTG
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
Clear Diagnosis