Case
SR1480
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR1480
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 10 years
Goldmann Visual Field - Right - 20/80 -2 sc
Exemplar
Goldmann Visual Field - Left - 20/80 -2 sc
Exemplar
Optical Coherence Tomography - Right - 20/80 -2 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/80 -2 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/80 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/80 -2 sc
Exemplar
Visit at age: 11 years
Fundus Photography - Right - 20/100 sc
Exemplar
Fundus Photography - Left - 20/100 sc
Exemplar
Goldmann Visual Field - Right - 20/100 sc
Exemplar
Visit at age: 12 years
Goldmann Visual Field - Right - 20/100 -1 sc
Exemplar
Goldmann Visual Field - Left - 20/100 -1 sc
Exemplar
Visit at age: 14 years
Goldmann Visual Field - Right - 20/100 -2 sc
Exemplar
Goldmann Visual Field - Left - 20/100 -2 sc
Exemplar
Optical Coherence Tomography - Right - 20/100 -2 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 -2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/100 -2 sc
Exemplar
Blue Autofluorescence - Right - 20/100 -2 sc
Exemplar
Blue Autofluorescence - Left - 20/100 -2 sc
Exemplar
Visit at age: 15 years
Goldmann Visual Field - Right - 20/125 sc
Exemplar
Goldmann Visual Field - Left - 20/125 sc
Exemplar
Optical Coherence Tomography - Right - 20/125 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 sc
Exemplar
Infrared Fundus Photograph - Left - 20/125 sc
Exemplar
Blue Autofluorescence - Right - 20/125 sc
Exemplar
Blue Autofluorescence - Left - 20/125 sc
Exemplar
Visit at age: 17 years
Goldmann Visual Field - Right - 20/160 +2 sc
Exemplar
Goldmann Visual Field - Left - 20/125 -2 sc
Exemplar
Optical Coherence Tomography - Right - 20/160 +2 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 -2 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160 +2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/125 -2 sc
Exemplar
Blue Autofluorescence - Right - 20/160 +2 sc
Exemplar
Blue Autofluorescence - Left - 20/125 -2 sc
Exemplar
Visit at age: 22 years
Fundus Photography - Right - 20/160 -2
Exemplar
Fundus Photography - Left - 20/160 -1
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Fundus Montage - Right - 20/160 -2
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Fundus Montage - Left - 20/160 -1
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Goldmann Visual Field - Right - 20/160 -2
Exemplar
Goldmann Visual Field - Left - 20/160 -1
Exemplar
Optical Coherence Tomography - Right - 20/160 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160 -2
Exemplar
Infrared Fundus Photograph - Left - 20/160 -1
Exemplar
Blue Autofluorescence - Right - 20/160 -2
Exemplar
Blue Autofluorescence - Left - 20/160 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Thr1526Met ACG>ATG | IVS30+2028C>T | AR |
Disease:
Gene:
Allele 1:
Thr1526Met ACG>ATG
Allele 2:
IVS30+2028C>T
Inheritance:
AR