Case
SR19
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Hidden
SR19
Student Mode
AR Stargardt Disease (IIA)
Female
Female
Visit at age: 21 years
Fundus Photography - Right - 20/30 -2
Exemplar
Fundus Photography - Left - 20/40 +2
Exemplar
Goldmann Visual Field - Right - 20/30 -2
Exemplar
Goldmann Visual Field - Left - 20/40 +2
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Visit at age: 23 years
Goldmann Visual Field - Right - 20/32 -1
Exemplar
Goldmann Visual Field - Left - 20/50 -2
Exemplar
Visit at age: 24 years
Optical Coherence Tomography - Right - 20/50 +2
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/60
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/50 +2
Exemplar
Infrared Fundus Photograph - Left - 20/60
Exemplar
Visit at age: 26 years
Goldmann Visual Field - Right - 20/32 -2
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Goldmann Visual Field - Left - 20/40 +2
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Visit at age: 29 years
Goldmann Visual Field - Right - 20/50 -1
Exemplar
Goldmann Visual Field - Left - 20/50 +1
Exemplar
Optical Coherence Tomography - Right - 20/50 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 -1
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Infrared Fundus Photograph - Left - 20/50 +1
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Visit at age: 30 years
Goldmann Visual Field - Right - 20/40
Exemplar
Goldmann Visual Field - Left - 20/40
Exemplar
Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
Exemplar
Infrared Fundus Photograph - Left - 20/40
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Visit at age: 33 years
Goldmann Visual Field - Right - 20/40 -2
Exemplar
Goldmann Visual Field - Left - 20/63 -1
Exemplar
Optical Coherence Tomography - Right - 20/40 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -2
Exemplar
Infrared Fundus Photograph - Left - 20/63 -1
Exemplar
Visit at age: 36 years
Fundus Photography - Right - 20/200 -1
Exemplar
Fundus Photography - Left - 20/200 -2
Exemplar
Goldmann Visual Field - Right - 20/200 -1
Exemplar
Goldmann Visual Field - Left - 20/200 -2
Exemplar
Optical Coherence Tomography - Right - 20/200 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 -1
Exemplar
Infrared Fundus Photograph - Left - 20/200 -2
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Case Level Images
Diagnosis & molecular findings
| Disease |
Gene |
Allele 1 variant(s) |
Allele 2 variant(s) |
Inheritance mode |
| AR Stargardt Disease |
ABCA4 |
Ala1038Val GCC>GTC / Leu541Pro CTA>CCA |
Gly863Ala (G)GA>(G)CA |
AR |
Allele 1:
Ala1038Val GCC>GTC / Leu541Pro CTA>CCA
Allele 2:
Gly863Ala (G)GA>(G)CA
False Genotype Rate:
Gene Count:
Submit Final Diagnosis
Clear Diagnosis