Case
SR1895
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
Hidden
SR1895
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
Visit at age: 17 years
Fundus Photography - Right - 20/200
Exemplar
Fundus Photography - Left - 20/200
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Fundus Montage - Right - 20/200
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Fundus Montage - Left - 20/200
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Goldmann Visual Field - Right - 20/200
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Goldmann Visual Field - Left - 20/200
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Optical Coherence Tomography - Right - 20/200
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
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Infrared Fundus Photograph - Left - 20/200
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Visit at age: 17 years (Visit 2)
Goldmann Visual Field - Right - 20/160
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Goldmann Visual Field - Left - 20/150
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Optical Coherence Tomography - Right - 20/160
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/150
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160
Exemplar
Infrared Fundus Photograph - Left - 20/150
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Visit at age: 21 years
Goldmann Visual Field - Right - 20/160
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Goldmann Visual Field - Left - 20/125 -2
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Optical Coherence Tomography - Right - 20/160
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160
Exemplar
Infrared Fundus Photograph - Left - 20/125 -2
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Visit at age: 23 years
Goldmann Visual Field - Right - 20/200 +2
Exemplar
Goldmann Visual Field - Left - 20/160
Exemplar
Optical Coherence Tomography - Right - 20/200 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 +2
Exemplar
Infrared Fundus Photograph - Left - 20/160
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Blue Autofluorescence - Right - 20/200 +2
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Blue Autofluorescence - Left - 20/160
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Visit at age: 25 years
Optical Coherence Tomography - Right - 10/100 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/100 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/100 -1
Exemplar
Infrared Fundus Photograph - Left - 10/100 -2
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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 | Arg838His CGC>CAC | AD |
Disease:
Gene:
Allele 1:
Arg838His CGC>CAC
Allele 2:
Inheritance:
AD