Case
SR446
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR446
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 26 years
Fundus Photography - Right - 10/160
Exemplar
Fundus Photography - Left - 10/125
Exemplar
Fundus Montage - Right - 10/160
Exemplar
Fundus Montage - Left - 10/125
Exemplar
Goldmann Visual Field - Right - 10/160
Exemplar
Goldmann Visual Field - Left - 10/125
Exemplar
Optical Coherence Tomography - Right - 10/160
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/125
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/160
Exemplar
Infrared Fundus Photograph - Left - 10/125
Exemplar
Visit at age: 27 years
Goldmann Visual Field - Right - 20/400 sc
Exemplar
Goldmann Visual Field - Left - 20/150 sc
Exemplar
Optical Coherence Tomography - Right - 20/400 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/150 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/400 sc
Exemplar
Infrared Fundus Photograph - Left - 20/150 sc
Exemplar
Visit at age: 31 years
Fundus Photography - Right - 10/200 -2
Exemplar
Fundus Photography - Left - 10/125 +1
Exemplar
Fundus Montage - Right - 10/200 -2
Exemplar
Fundus Montage - Left - 10/125 +1
Exemplar
Goldmann Visual Field - Right - 10/200 -2
Exemplar
Goldmann Visual Field - Left - 10/125 +1
Exemplar
Optical Coherence Tomography - Right - 10/200 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/125 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/200 -2
Exemplar
Infrared Fundus Photograph - Left - 10/125 +1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Phe418Ser TTT>TCT | Pro1380Leu CCG>CTG | AR |
Disease:
Gene:
Allele 1:
Phe418Ser TTT>TCT
Allele 2:
Pro1380Leu CCG>CTG
Inheritance:
AR