Case
SR72
Student Mode
Achromatopsia (IA2d)
Male
Male
Hidden
SR72
Student Mode
Achromatopsia (IA2d)
Male
Male
Visit at age: 16 years
Fundus Photography - Right - 20/100 -1
Exemplar
Fundus Photography - Left - 20/100 -1
Exemplar
Fundus Montage - Right - 20/100 -1
Exemplar
Fundus Montage - Left - 20/100 -1
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Optical Coherence Tomography - Right - 20/100 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 -1
Exemplar
Infrared Fundus Photograph - Left - 20/100 -1
Exemplar
Visit at age: 17 years
Goldmann Visual Field - Right - 20/100
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Goldmann Visual Field - Left - 20/100
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Optical Coherence Tomography - Right - 20/100
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100
Exemplar
Infrared Fundus Photograph - Left - 20/100
Exemplar
Visit at age: 20 years
Optical Coherence Tomography - Right - 20/100
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100
Exemplar
Infrared Fundus Photograph - Left - 20/125 -1
Exemplar
Visit at age: 23 years
Optical Coherence Tomography - Right - 20/60 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/60 -2
Exemplar
Infrared Fundus Photograph - Left - 20/100
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Blue Autofluorescence - Right - 20/60 -2
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Blue Autofluorescence - Left - 20/100
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Achromatopsia | CNGA3 | IVS2+1 G>A | Ala415Pro GCC>CCC | AR |