Case
SR1715
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
Hidden
SR1715
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
Visit at age: 46 years
Fundus Photography - Right - 20/100 sc
Exemplar
Fundus Photography - Left - 20/32 -2 sc
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Fundus Montage - Right - 20/100 sc
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Fundus Montage - Left - 20/32 -2 sc
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Goldmann Visual Field - Right - 20/100 sc
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Goldmann Visual Field - Left - 20/32 -2 sc
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Optical Coherence Tomography - Right - 20/100 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 -2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 sc
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Infrared Fundus Photograph - Left - 20/32 -2 sc
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Visit at age: 47 years
Goldmann Visual Field - Right - 20/80 -1 sc
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Goldmann Visual Field - Left - 20/32 -1 sc
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Optical Coherence Tomography - Right - 20/80 -1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 -1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80 -1 sc
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Infrared Fundus Photograph - Left - 20/32 -1 sc
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Visit at age: 49 years
Goldmann Visual Field - Right - 20/50 -1 sc
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Goldmann Visual Field - Left - 20/32 +2 sc
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Optical Coherence Tomography - Right - 20/50 -1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 +2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 -1 sc
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Infrared Fundus Photograph - Left - 20/32 +2 sc
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Visit at age: 51 years
Fundus Photography - Right - 20/32 sc
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Fundus Photography - Left - 20/25 -2 sc
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Goldmann Visual Field - Right - 20/32 sc
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Goldmann Visual Field - Left - 20/25 -2 sc
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Optical Coherence Tomography - Right - 20/32 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 sc
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Infrared Fundus Photograph - Left - 20/25 -2 sc
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Visit at age: 53 years
Optical Coherence Tomography - Right - 20/50 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 sc
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Infrared Fundus Photograph - Left - 20/40 sc
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Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Choroideremia | CHM | Insertion of 212.3kb of Chr. 3 in intron 2 (IVS2+15,016 ins 212.3kb) | XL |
Disease:
Gene:
Allele 1:
Insertion of 212.3kb of Chr. 3 in intron 2 (IVS2+15,016 ins 212.3kb)
Allele 2:
Inheritance:
XL