Case
SR271
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR271
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 16 years
Fundus Photography - Right - 20/200 sc
Exemplar
Fundus Photography - Left - 20/250 sc
Exemplar
Fundus Montage - Right - 20/200 sc
Exemplar
Fundus Montage - Left - 20/250 sc
Exemplar
Goldmann Visual Field - Right - 20/200 sc
Exemplar
Goldmann Visual Field - Left - 20/250 sc
Exemplar
Optical Coherence Tomography - Right - 20/200 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/250 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/200 sc
Exemplar
Infrared Fundus Photograph - Left - 20/250 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
| AR Stargardt Disease |
ABCA4 |
Glu1087Lys GAA>AAA |
Glu1087Lys GAA>AAA |
AR |
Allele 1:
Glu1087Lys GAA>AAA
Allele 2:
Glu1087Lys GAA>AAA
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
Clear Diagnosis