Case
SR2571
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR2571
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 14 years
Fundus Photography - Right - 20/200 -3 sc
Exemplar
Fundus Photography - Left - 20/200 -2 sc
Exemplar
Fundus Montage - Right - 20/200 -3 sc
Exemplar
Fundus Montage - Left - 20/200 -2 sc
Exemplar
Goldmann Visual Field - Right - 20/200 -3 sc
Exemplar
Goldmann Visual Field - Left - 20/200 -2 sc
Exemplar
Optical Coherence Tomography - Right - 20/200 -3 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/200 -2 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/200 -3 sc
Exemplar
Infrared Fundus Photograph - Left - 20/200 -2 sc
Exemplar
Blue Autofluorescence - Right - 20/200 -3 sc
Exemplar
Blue Autofluorescence - Left - 20/200 -2 sc
Exemplar
Visit at age: 16 years
Goldmann Visual Field - Right - 10/125 -2 sc
Exemplar
Goldmann Visual Field - Left - 10/125 -2 sc
Exemplar
Optical Coherence Tomography - Right - 10/125 -2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/125 -2 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/125 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 10/125 -2 sc
Exemplar
Blue Autofluorescence - Right - 10/125 -2 sc
Exemplar
Blue Autofluorescence - Left - 10/125 -2 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Ala1038Val GCC>GTC / Leu541Pro CTA>CCA | IVS36+3 del4tAAGT | AR |
Disease:
Gene:
Allele 1:
Ala1038Val GCC>GTC / Leu541Pro CTA>CCA
Allele 2:
IVS36+3 del4tAAGT
Inheritance:
AR