Case
SR1868
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
Hidden
SR1868
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
Visit at age: 35 years
Fundus Photography - Right - 20/32 -1
Exemplar
Fundus Photography - Left - 20/32
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Fundus Montage - Right - 20/32 -1
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Fundus Montage - Left - 20/32
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Goldmann Visual Field - Right - 20/32 -1
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Goldmann Visual Field - Left - 20/32
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Optical Coherence Tomography - Right - 20/32 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 -1
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Infrared Fundus Photograph - Left - 20/32
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Visit at age: 38 years
Goldmann Visual Field - Right - 20/40
Exemplar
Goldmann Visual Field - Left - 20/40
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Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
Exemplar
Infrared Fundus Photograph - Left - 20/40
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Blue Autofluorescence - Right - 20/40
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Blue Autofluorescence - Left - 20/40
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Visit at age: 39 years
Goldmann Visual Field - Right - 20/100
Exemplar
Goldmann Visual Field - Left - 20/100 +1
Exemplar
Optical Coherence Tomography - Right - 20/100
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/100 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100
Exemplar
Infrared Fundus Photograph - Left - 20/100 +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 | Leu151Phe CTC>TTC | AD |
Disease:
Gene:
Allele 1:
Leu151Phe CTC>TTC
Allele 2:
Inheritance:
AD