Case
SR47
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
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SR47
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
Visit at age: 36 years
Fundus Photography - Right - 20/200 +2
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Fundus Photography - Left - 20/160 -2
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Goldmann Visual Field - Right - 20/200 +2
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Goldmann Visual Field - Left - 20/160 -2
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Optical Coherence Tomography - Right - 20/200 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 +2
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Infrared Fundus Photograph - Left - 20/160 -2
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Visit at age: 38 years
Optical Coherence Tomography - Right - 20/200
Exemplar / OCT Stack
OCT Stack
OCT Stack
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Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200
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Infrared Fundus Photograph - Left - 20/200
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Visit at age: 40 years
Fundus Photography - Right - 20/200 -2
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Fundus Photography - Left - 20/200 -1
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Optical Coherence Tomography - Right - 20/200 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200 -1
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OCT Stack
Infrared Fundus Photograph - Right - 20/200 -2
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Infrared Fundus Photograph - Left - 20/200 -1
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Visit at age: 42 years
Optical Coherence Tomography - Right - 20/200
Exemplar / OCT Stack
OCT Stack
OCT Stack
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Exemplar / OCT Stack
OCT Stack
OCT Stack
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Infrared Fundus Photograph - Left - 20/200
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Visit at age: 43 years
Goldmann Visual Field - Right - 20/200 -1
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Goldmann Visual Field - Left - 20/200
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Optical Coherence Tomography - Right - 20/200 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 -1
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Infrared Fundus Photograph - Left - 20/200
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Visit at age: 44 years
Goldmann Visual Field - Right - 20/200 -2
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Goldmann Visual Field - Left - 20/200 +1
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Optical Coherence Tomography - Right - 20/200 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 -2
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Infrared Fundus Photograph - Left - 20/200 +1
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Visit at age: 48 years
Optical Coherence Tomography - Right - 10/160 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/125 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/160 -1
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Infrared Fundus Photograph - Left - 10/125 -1
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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 | GUCA1A | Glu155Gly GAG>GGG | AD |
Disease:
Gene:
Allele 1:
Glu155Gly GAG>GGG
Allele 2:
Inheritance:
AD