Case
SR1497
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Hidden
SR1497
Student Mode
AR Stargardt Disease (IIA)
Male
Male
Visit at age: 12 years
Fundus Photography - Right - 20/200 -3
Exemplar
Fundus Photography - Left - 20/200 -2
Exemplar
Fundus Montage - Right - 20/200 -3
Exemplar
Fundus Montage - Left - 20/200 -2
Exemplar
Goldmann Visual Field - Right - 20/200 -3
Exemplar
Goldmann Visual Field - Left - 20/200 -2
Exemplar
Optical Coherence Tomography - Right - 20/200 -3
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200 -2
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/200 -3
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Infrared Fundus Photograph - Left - 20/200 -2
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Visit at age: 13 years
Goldmann Visual Field - Right - 20/200 -3
Exemplar
Goldmann Visual Field - Left - 20/200 -2
Exemplar
Optical Coherence Tomography - Right - 20/200 -3
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 -3
Exemplar
Infrared Fundus Photograph - Left - 20/200 -2
Exemplar
Visit at age: 15 years
Goldmann Visual Field - Right - 10/200
Exemplar
Goldmann Visual Field - Left - 10/125 -2
Exemplar
Optical Coherence Tomography - Right - 10/200
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/125 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/200
Exemplar
Infrared Fundus Photograph - Left - 10/125 -2
Exemplar
Visit at age: 18 years
Goldmann Visual Field - Right - 10/200
Exemplar
Goldmann Visual Field - Left - 10/125 -1
Exemplar
Optical Coherence Tomography - Right - 10/200
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/125 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/200
Exemplar
Infrared Fundus Photograph - Left - 10/125 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Stargardt Disease | ABCA4 | Leu541Pro CTA>CCA, Ala1038Val GCC>GTC | Gln1003Stop CAG>TAG | AR |
Disease:
Gene:
Allele 1:
Leu541Pro CTA>CCA, Ala1038Val GCC>GTC
Allele 2:
Gln1003Stop CAG>TAG
Inheritance:
AR