Case
SR1741
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR1741
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 14 years
Fundus Photography - Right - 20/32
Exemplar
Fundus Photography - Left - 20/20 -2
Exemplar
Fundus Montage - Right - 20/32
Exemplar
Fundus Montage - Left - 20/20 -2
Exemplar
Goldmann Visual Field - Right - 20/32
Exemplar
Goldmann Visual Field - Left - 20/20 -2
Exemplar
Optical Coherence Tomography - Right - 20/32
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32
Exemplar
Infrared Fundus Photograph - Left - 20/20 -2
Exemplar
Blue Autofluorescence - Right - 20/32
Exemplar
Blue Autofluorescence - Left - 20/20 -2
Exemplar
Visit at age: 16 years
Goldmann Visual Field - Right - 20/40 -2
Exemplar
Goldmann Visual Field - Left - 20/25
Exemplar
Optical Coherence Tomography - Right - 20/40 -2
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
Exemplar
Infrared Fundus Photograph - Left - 20/25
Exemplar
Blue Autofluorescence - Right - 20/40 -2
Exemplar
Blue Autofluorescence - Left - 20/25
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Gly607Arg GGG>AGG | Gly1961Glu GGA>GAA | AR |
Disease:
Gene:
Allele 1:
Gly607Arg GGG>AGG
Allele 2:
Gly1961Glu GGA>GAA
Inheritance:
AR