Case
SR729
Student Mode
Achromatopsia (IA2d)
Female
Female
Hidden
SR729
Student Mode
Achromatopsia (IA2d)
Female
Female
Visit at age: 41 years
Fundus Photography - Right - 20/60 -1
Exemplar
Fundus Photography - Left - 20/40 -2
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Goldmann Visual Field - Right - 20/60 -1
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Goldmann Visual Field - Left - 20/40 -2
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Visit at age: 42 years
Fundus Photography - Right - 20/70 +1
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Fundus Photography - Left - 20/60 +2
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Fundus Montage - Right - 20/70 +1
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Fundus Montage - Left - 20/60 +2
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Visit at age: 44 years
Goldmann Visual Field - Right - 20/60 -1
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Goldmann Visual Field - Left - 20/50 +1
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Visit at age: 52 years
Fundus Photography - Right - 20/50 -2
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Fundus Photography - Left - 20/60 +1
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Optical Coherence Tomography - Right - 20/50 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/60 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 -2
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Infrared Fundus Photograph - Left - 20/60 +1
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Visit at age: 55 years
Optical Coherence Tomography - Right - 20/50
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50
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Infrared Fundus Photograph - Left - 20/50 +1
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Visit at age: 56 years
Goldmann Visual Field - Right - 20/63 +2
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Goldmann Visual Field - Left - 20/63 -2
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Optical Coherence Tomography - Right - 20/63 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63 +2
Exemplar
Infrared Fundus Photograph - Left - 20/63 -2
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Visit at age: 58 years
Goldmann Visual Field - Right - 20/100 -1
Exemplar
Goldmann Visual Field - Left - 20/63 +2
Exemplar
Optical Coherence Tomography - Right - 20/100 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 -1
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Infrared Fundus Photograph - Left - 20/63 +2
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Visit at age: 61 years
Optical Coherence Tomography - Right - 20/80 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80 -1
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Infrared Fundus Photograph - Left - 20/50
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Achromatopsia | CNGB3 | Thr383 del1aC | IVS13+1 G>A | AR |