Case
SR474
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR474
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 11 years
Fundus Photography - Right - 20/100 -2
Exemplar
Fundus Photography - Left - 20/100
Exemplar
Fundus Montage - Right - 20/100 -2
Exemplar
Fundus Montage - Left - 20/100
Exemplar
Goldmann Visual Field - Right - 20/100 -2
Exemplar
Goldmann Visual Field - Left - 20/100
Exemplar
Optical Coherence Tomography - Right - 20/100 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 -2
Exemplar
Infrared Fundus Photograph - Left - 20/100
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Gly1961Glu GGA>GAA, Arg212Cys CGC>TGC | Gly1961Glu GGA>GAA, Arg212Cys CGC>TGC | AR |
Disease:
Gene:
Allele 1:
Gly1961Glu GGA>GAA, Arg212Cys CGC>TGC
Allele 2:
Gly1961Glu GGA>GAA, Arg212Cys CGC>TGC
Inheritance:
AR