Case
SR2144
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR2144
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 30 years
Fundus Photography - Right - 20/15 -1 sc
Exemplar
Fundus Photography - Left - 20/15 -2 sc
Exemplar
Fundus Montage - Right - 20/15 -1 sc
Exemplar
Fundus Montage - Left - 20/15 -2 sc
Exemplar
Goldmann Visual Field - Right - 20/15 -1 sc
Exemplar
Goldmann Visual Field - Left - 20/15 -2 sc
Exemplar
Optical Coherence Tomography - Right - 20/15 -1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/15 -2 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/15 -1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/15 -2 sc
Exemplar
Visit at age: 32 years
Optical Coherence Tomography - Right - 20/15 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/15 -2 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/15 sc
Exemplar
Infrared Fundus Photograph - Left - 20/15 -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 | IVS30+1321 A>G | Asn965Ser AAT>AGT | AR |
Disease:
Gene:
Allele 1:
IVS30+1321 A>G
Allele 2:
Asn965Ser AAT>AGT
Inheritance:
AR