Case
SR1036
Student Mode
AR Cone and Cone Rod Dystrophy (IA1biii)
Female
Female
Hidden
SR1036
Student Mode
AR Cone and Cone Rod Dystrophy (IA1biii)
Female
Female
Visit at age: 38 years
Optical Coherence Tomography - Right - 20/20 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -1
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Infrared Fundus Photograph - Left - 20/40
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Fluorescein Angiography - Right - 20/20 -1
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Fluorescein Angiography - Left - 20/40
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Visit at age: 38 years (Visit 2)
Fundus Photography - Right - 20/25 +1
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Fundus Photography - Left - 20/32 -1
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Goldmann Visual Field - Right - 20/25 +1
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Goldmann Visual Field - Left - 20/32 -1
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Optical Coherence Tomography - Right - 20/25 +1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 +1
Exemplar
Infrared Fundus Photograph - Left - 20/32 -1
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Visit at age: 39 years
Optical Coherence Tomography - Right - 20/25
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/50 -2
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/25
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Infrared Fundus Photograph - Left - 20/50 -2
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Visit at age: 41 years
Goldmann Visual Field - Right - 20/32 -2
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Goldmann Visual Field - Left - 20/80 -2
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Optical Coherence Tomography - Right - 20/32 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 -2
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Infrared Fundus Photograph - Left - 20/80 -2
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Visit at age: 42 years
Optical Coherence Tomography - Right - 20/63
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63
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Infrared Fundus Photograph - Left - 20/80
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Visit at age: 43 years
Optical Coherence Tomography - Right - 20/160 +1
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 - 20/160 +1
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Infrared Fundus Photograph - Left - 20/200 -1
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Visit at age: 43 years (Visit 2)
Fundus Photography - Right - 20/80 -1
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Fundus Photography - Left - 20/125
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Goldmann Visual Field - Right - 20/80 -1
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Goldmann Visual Field - Left - 20/125
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Visit at age: 44 years
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
Exemplar
Infrared Fundus Photograph - Left - 20/200
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Visit at age: 46 years
Goldmann Visual Field - Right - 20/160 -1
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Goldmann Visual Field - Left - 20/200 +1
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Cone and Cone Rod Dystrophy | MFSD8 | Glu336Gln GAG>CAG | IVS6+5 G>A | AR |
Disease:
Gene:
Allele 1:
Glu336Gln GAG>CAG
Allele 2:
IVS6+5 G>A
Inheritance:
AR