Case
SR1588
Student Mode
AD Stargardt Disease (IIF)
Female
Female
Hidden
SR1588
Student Mode
AD Stargardt Disease (IIF)
Female
Female
Visit at age: 13 years
Fundus Photography - Right - 20/32 -1 sc
Exemplar
Fundus Photography - Left - 20/25 -1
Exemplar
Fundus Montage - Right - 20/32 -1 sc
Exemplar
Fundus Montage - Left - 20/25 -1
Exemplar
Goldmann Visual Field - Right - 20/32 -1 sc
Exemplar
Goldmann Visual Field - Left - 20/25 -1
Exemplar
Optical Coherence Tomography - Right - 20/32 -1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 -1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/25 -1
Exemplar
Blue Autofluorescence - Right - 20/32 -1 sc
Exemplar
Blue Autofluorescence - Left - 20/25 -1
Exemplar
Visit at age: 14 years
Goldmann Visual Field - Right - 20/40 -2 sc
Exemplar
Goldmann Visual Field - Left - 20/25
Exemplar
Optical Coherence Tomography - Right - 20/40 -2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/25
Exemplar
Blue Autofluorescence - Right - 20/40 -2 sc
Exemplar
Blue Autofluorescence - Left - 20/25
Exemplar
Visit at age: 15 years
Goldmann Visual Field - Right - 20/40 +1 sc
Exemplar
Goldmann Visual Field - Left - 20/25 -1 sc
Exemplar
Optical Coherence Tomography - Right - 20/40 +1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 +1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/25 -1 sc
Exemplar
Visit at age: 17 years
Goldmann Visual Field - Right - 20/50 sc
Exemplar
Goldmann Visual Field - Left - 20/32 sc
Exemplar
Optical Coherence Tomography - Right - 20/50 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 sc
Exemplar
Infrared Fundus Photograph - Left - 20/32 sc
Exemplar
Visit at age: 18 years
Fundus Photography - Right - 20/50 +1 sc
Exemplar
Fundus Photography - Left - 20/32 sc
Exemplar
Optical Coherence Tomography - Right - 20/50 +1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 +1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/32 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Stargardt Disease | ELOVL4 | Leu263 del5tttCTTAA | AD |