SR1780
AR Cone and Cone Rod Dystrophy (IA1biii)
Male
Male
SR1780
AR Cone and Cone Rod Dystrophy (IA1biii)
Male
Male
Visit at age: 8 years
Fundus Photography - Right - 20/160
Exemplar
Fundus Photography - Left - 20/160
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Goldmann Visual Field - Right - 20/160
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Goldmann Visual Field - Left - 20/160
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Optical Coherence Tomography - Right - 20/160
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160
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Infrared Fundus Photograph - Left - 20/160
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Blue Autofluorescence - Right - 20/160
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Blue Autofluorescence - Left - 20/160
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Visit at age: 8 years (Visit 2)
Optical Coherence Tomography - Right - 20/160
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160
Exemplar
Infrared Fundus Photograph - Left - 20/200 +2
Exemplar
Visit at age: 9 years
Goldmann Visual Field - Right - 20/160 +2
Exemplar
Goldmann Visual Field - Left - 20/160 -2
Exemplar
Optical Coherence Tomography - Right - 20/160 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160 +2
Exemplar
Infrared Fundus Photograph - Left - 20/160 -2
Exemplar
Visit at age: 10 years
Goldmann Visual Field - Right - 20/160 -2
Exemplar
Goldmann Visual Field - Left - 20/160 -2
Exemplar
Optical Coherence Tomography - Right - 20/160 -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 - 20/160 -2
Exemplar
Infrared Fundus Photograph - Left - 20/160 -2
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Visit at age: 11 years
Fundus Photography - Right - 20/160 -1
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Fundus Photography - Left - 20/160 -1
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Fundus Montage - Right - 20/160 -1
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Fundus Montage - Left - 20/160 -1
Exemplar
Optical Coherence Tomography - Right - 20/160 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160 -1
Exemplar
Infrared Fundus Photograph - Left - 20/160 -1
Exemplar
Visit at age: 13 years
Goldmann Visual Field - Right - 20/160 -2
Exemplar
Goldmann Visual Field - Left - 20/160
Exemplar
Optical Coherence Tomography - Right - 20/160 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160 -2
Exemplar
Infrared Fundus Photograph - Left - 20/160
Exemplar
Visit at age: 15 years
Optical Coherence Tomography - Right - 20/160 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/160 -1
Exemplar
Infrared Fundus Photograph - Left - 20/160 -2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Cone and Cone Rod Dystrophy | NMNAT1 | Asn18Ser AAT>AGT | Glu257Lys GAG>AAG | AR |
Disease:
Gene:
Allele 1:
Asn18Ser AAT>AGT
Allele 2:
Glu257Lys GAG>AAG
Inheritance:
AR