Case
SR513
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Female
Female
Hidden
SR513
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Female
Female
Visit at age: 30 years
Fundus Photography - Right - 20/50
Exemplar
Fundus Photography - Left - 20/63 -1
Exemplar
Fundus Montage - Right - 20/50
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Fundus Montage - Left - 20/63 -1
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Goldmann Visual Field - Right - 20/50
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Goldmann Visual Field - Left - 20/63 -1
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Optical Coherence Tomography - Right - 20/50
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50
Exemplar
Infrared Fundus Photograph - Left - 20/63 -1
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Visit at age: 31 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: 33 years
Goldmann Visual Field - Right - 20/100
Exemplar
Goldmann Visual Field - Left - 20/63 +1
Exemplar
Optical Coherence Tomography - Right - 20/100
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 - 20/100
Exemplar
Infrared Fundus Photograph - Left - 20/63 +1
Exemplar
Visit at age: 36 years
Goldmann Visual Field - Right - 20/63
Exemplar
Goldmann Visual Field - Left - 20/63
Exemplar
Optical Coherence Tomography - Right - 20/63
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63
Exemplar
Infrared Fundus Photograph - Left - 20/63
Exemplar
Visit at age: 38 years
Optical Coherence Tomography - Right - 20/80 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80 -2
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Infrared Fundus Photograph - Left - 20/125
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Cone and Cone Rod Dystrophy | GUCY2D | Arg838Cys CGC>TGC | AD |
Disease:
Gene:
Allele 1:
Arg838Cys CGC>TGC
Allele 2:
Inheritance:
AD