Case
SR1721
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
Hidden
SR1721
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
Visit at age: 41 years
Goldmann Visual Field - Right - 20/50
Exemplar
Goldmann Visual Field - Left - 20/63
Exemplar
Visit at age: 49 years
Fundus Photography - Right - 20/50
Exemplar
Fundus Photography - Left - 20/50 -1
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Fundus Montage - Right - 20/50
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Fundus Montage - Left - 20/50 -1
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Goldmann Visual Field - Right - 20/50
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Goldmann Visual Field - Left - 20/50 -1
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Optical Coherence Tomography - Right - 20/50
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50
Exemplar
Infrared Fundus Photograph - Left - 20/50 -1
Exemplar
Swept-Source OCT - Right - 20/50
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Swept-Source OCT - Left - 20/50 -1
Exemplar
Visit at age: 51 years
Goldmann Visual Field - Right - 20/50 -2
Exemplar
Goldmann Visual Field - Left - 20/50
Exemplar
Optical Coherence Tomography - Right - 20/50 -2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/50
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 -2
Exemplar
Infrared Fundus Photograph - Left - 20/50
Exemplar
Visit at age: 53 years
Goldmann Visual Field - Right - 20/50 -2
Exemplar
Goldmann Visual Field - Left - 20/40 -1
Exemplar
Optical Coherence Tomography - Right - 20/50 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/50 -2
Exemplar
Infrared Fundus Photograph - Left - 20/40 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Choroideremia | CHM | 7 Gene Deletion, Including CHM | XL |
Disease:
Gene:
Allele 1:
7 Gene Deletion, Including CHM
Allele 2:
Inheritance:
XL