Case
SR1484
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR1484
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 43 years
Fundus Photography - Right - 10/200 sc
Exemplar
Fundus Photography - Left - 10/200 sc
Exemplar
Fundus Montage - Right - 10/200 sc
Exemplar
Fundus Montage - Left - 10/200 sc
Exemplar
Goldmann Visual Field - Right - 10/200 sc
Exemplar
Goldmann Visual Field - Left - 10/200 sc
Exemplar
Optical Coherence Tomography - Right - 10/200 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/200 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/200 sc
Exemplar
Infrared Fundus Photograph - Left - 10/200 sc
Exemplar
Visit at age: 44 years
Fundus Photography - Right - 20/300 sc
Exemplar
Fundus Photography - Left - 20/300 sc
Exemplar
Goldmann Visual Field - Right - 20/300 sc
Exemplar
Goldmann Visual Field - Left - 20/300 sc
Exemplar
Optical Coherence Tomography - Right - 20/300 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/300 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/300 sc
Exemplar
Infrared Fundus Photograph - Left - 20/300 sc
Exemplar
Visit at age: 46 years
Goldmann Visual Field - Right - 10/160 +1 sc
Exemplar
Goldmann Visual Field - Left - 10/180 +1 sc
Exemplar
Optical Coherence Tomography - Right - 10/160 +1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/180 +1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/160 +1 sc
Exemplar
Infrared Fundus Photograph - Left - 10/180 +1 sc
Exemplar
Visit at age: 50 years
Fundus Photography - Right - 20/300 sc
Exemplar
Fundus Photography - Left - 20/700 sc
Exemplar
Goldmann Visual Field - Right - 20/300 sc
Exemplar
Goldmann Visual Field - Left - 20/700 sc
Exemplar
Optical Coherence Tomography - Right - 20/300 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/700 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/300 sc
Exemplar
Infrared Fundus Photograph - Left - 20/700 sc
Exemplar
Blue Autofluorescence - Right - 20/300 sc
Exemplar
Blue Autofluorescence - Left - 20/700 sc
Exemplar
Visit at age: 54 years
Goldmann Visual Field - Right - 10/200 sc
Exemplar
Goldmann Visual Field - Left - 10/250 sc
Exemplar
Optical Coherence Tomography - Right - 10/200 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/250 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/200 sc
Exemplar
Infrared Fundus Photograph - Left - 10/250 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
AR Stargardt Disease |
ABCA4 |
Trp339Gly TGG>GGG |
Gly863Ala (G)GA>(G)CA / Arg572Gln CGA>CAA |
AR |
Allele 1:
Trp339Gly TGG>GGG
Allele 2:
Gly863Ala (G)GA>(G)CA / Arg572Gln CGA>CAA