Case
SR217
Student Mode
XL Cone and Cone Rod Dystrophy (IA1bi)
Male
Male
Hidden
SR217
Student Mode
XL Cone and Cone Rod Dystrophy (IA1bi)
Male
Male
Visit at age: 52 years
Fundus Photography - Right - 20/25 +2
Exemplar
Fundus Photography - Left - 20/30
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Goldmann Visual Field - Right - 20/25 +2
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Goldmann Visual Field - Left - 20/30
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Visit at age: 53 years
Goldmann Visual Field - Right - 20/25
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Goldmann Visual Field - Left - 20/50
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Visit at age: 55 years
Goldmann Visual Field - Right - 20/32 +1
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Goldmann Visual Field - Left - 20/32 -1
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Optical Coherence Tomography - Right - 20/32 +1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 +1
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Infrared Fundus Photograph - Left - 20/32 -1
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Visit at age: 58 years
Goldmann Visual Field - Right - 20/32 -1
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Goldmann Visual Field - Left - 20/80 -1
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Optical Coherence Tomography - Right - 20/32 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 -1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 -1
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Infrared Fundus Photograph - Left - 20/80 -1
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Visit at age: 60 years
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
Optical Coherence Tomography - Left - 20/200
Exemplar / 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: 61 years
Goldmann Visual Field - Right - 20/160
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Goldmann Visual Field - Left - 20/200 +1
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Optical Coherence Tomography - Right - 20/160
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
Exemplar
Infrared Fundus Photograph - Left - 20/200 +1
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Visit at age: 64 years
Goldmann Visual Field - Right - 20/125 -2
Exemplar
Goldmann Visual Field - Left - 20/160 -2
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Optical Coherence Tomography - Right - 20/125 -2
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 - 20/125 -2
Exemplar
Infrared Fundus Photograph - Left - 20/160 -2
Exemplar
Visit at age: 66 years
Goldmann Visual Field - Right - 20/125 -2
Exemplar
Goldmann Visual Field - Left - 20/160 +1
Exemplar
Optical Coherence Tomography - Right - 20/125 -2
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 - 20/125 -2
Exemplar
Infrared Fundus Photograph - Left - 20/160 +1
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Cone and Cone Rod Dystrophy | RPGR | Gly1093 del2gGA | XL |
Disease:
Gene:
Allele 1:
Gly1093 del2gGA
Allele 2:
Inheritance:
XL