Case
SR2179
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR2179
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 12 years
Fundus Photography - Right - 20/50 -1
Exemplar
Fundus Photography - Left - 20/50 +2
Exemplar
Goldmann Visual Field - Right - 20/50 -1
Exemplar
Goldmann Visual Field - Left - 20/50 +2
Exemplar
Optical Coherence Tomography - Right - 20/50 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 -1
Exemplar
Infrared Fundus Photograph - Left - 20/50 +2
Exemplar
Visit at age: 14 years
Optical Coherence Tomography - Right - 20/40 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -2
Exemplar
Infrared Fundus Photograph - Left - 20/50 +2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Gly863Ala (G)GA>(G)CA / Arg572Gln CGA>CAA | Trp821Arg TGG>AGG | AR |
Disease:
Gene:
Allele 1:
Gly863Ala (G)GA>(G)CA / Arg572Gln CGA>CAA
Allele 2:
Trp821Arg TGG>AGG
Inheritance:
AR