Case
SR1814
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR1814
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 22 years
Fundus Photography - Right - 20/20 -2 sc
Exemplar
Fundus Photography - Left - 20/25 -1 sc
Exemplar
Fundus Montage - Right - 20/20 -2 sc
Exemplar
Fundus Montage - Left - 20/25 -1 sc
Exemplar
Goldmann Visual Field - Right - 20/20 -2 sc
Exemplar
Goldmann Visual Field - Left - 20/25 -1 sc
Exemplar
Optical Coherence Tomography - Right - 20/20 -2 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/25 -1 sc
Exemplar
Blue Autofluorescence - Right - 20/20 -2 sc
Exemplar
Blue Autofluorescence - Left - 20/25 -1 sc
Exemplar
Visit at age: 23 years
Fundus Photography - Right - 20/32 sc
Exemplar
Fundus Photography - Left - 20/100 -2 sc
Exemplar
Goldmann Visual Field - Right - 20/32 sc
Exemplar
Goldmann Visual Field - Left - 20/100 -2 sc
Exemplar
Optical Coherence Tomography - Right - 20/32 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 -2 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 sc
Exemplar
Infrared Fundus Photograph - Left - 20/100 -2 sc
Exemplar
Blue Autofluorescence - Right - 20/32 sc
Exemplar
Blue Autofluorescence - Left - 20/100 -2 sc
Exemplar
Visit at age: 24 years
Goldmann Visual Field - Right - 20/100 sc
Exemplar
Goldmann Visual Field - Left - 20/100 -1 sc
Exemplar
Optical Coherence Tomography - Right - 20/100 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 sc
Exemplar
Infrared Fundus Photograph - Left - 20/100 -1 sc
Exemplar
Blue Autofluorescence - Right - 20/100 sc
Exemplar
Blue Autofluorescence - Left - 20/100 -1 sc
Exemplar
Visit at age: 25 years
Fundus Photography - Right - 20/100 +1 sc
Exemplar
Fundus Photography - Left - 20/100 -1 sc
Exemplar
Fundus Montage - Right - 20/100 +1 sc
Exemplar
Fundus Montage - Left - 20/100 -1 sc
Exemplar
Goldmann Visual Field - Right - 20/100 +1 sc
Exemplar
Goldmann Visual Field - Left - 20/100 -1 sc
Exemplar
Optical Coherence Tomography - Right - 20/100 +1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 +1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/100 -1 sc
Exemplar
Visit at age: 27 years
Goldmann Visual Field - Right - 20/100 -2 sc
Exemplar
Goldmann Visual Field - Left - 20/100 -1 sc
Exemplar
Optical Coherence Tomography - Right - 20/100 -2 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/100 -1 sc
Exemplar
Blue Autofluorescence - Right - 20/100 -2 sc
Exemplar
Blue Autofluorescence - Left - 20/100 -1 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Tyr245Stop TAT>TAG | Unknown | AR |
Disease:
Gene:
Allele 1:
Tyr245Stop TAT>TAG
Allele 2:
Unknown
Inheritance:
AR