Case
SR1077
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
Hidden
SR1077
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
Visit at age: 8 years
Fundus Photography - Right - 20/32
Exemplar
Fundus Photography - Left - 20/32 -2
Exemplar
Fundus Montage - Right - 20/32
Exemplar
Fundus Montage - Left - 20/32 -2
Exemplar
Goldmann Visual Field - Right - 20/32
Exemplar
Goldmann Visual Field - Left - 20/32 -2
Exemplar
Optical Coherence Tomography - Right - 20/32
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32
Exemplar
Infrared Fundus Photograph - Left - 20/32 -2
Exemplar
Visit at age: 11 years
Goldmann Visual Field - Right - 20/20 -3
Exemplar
Goldmann Visual Field - Left - 20/30 +1
Exemplar
Optical Coherence Tomography - Right - 20/20 -3
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/30 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -3
Exemplar
Infrared Fundus Photograph - Left - 20/30 +1
Exemplar
Visit at age: 13 years
Goldmann Visual Field - Right - 20/25 -1
Exemplar
Goldmann Visual Field - Left - 20/25 -1
Exemplar
Optical Coherence Tomography - Right - 20/25 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -1
Exemplar
Infrared Fundus Photograph - Left - 20/25 -1
Exemplar
Visit at age: 15 years
Goldmann Visual Field - Right - 20/25 -1
Exemplar
Goldmann Visual Field - Left - 20/32
Exemplar
Optical Coherence Tomography - Right - 20/25 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/25 -1
Exemplar
Infrared Fundus Photograph - Left - 20/32
Exemplar
Visit at age: 19 years
Goldmann Visual Field - Right - 20/20 -1
Exemplar
Goldmann Visual Field - Left - 20/20 -1
Exemplar
Optical Coherence Tomography - Right - 20/20 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -1
Exemplar
Infrared Fundus Photograph - Left - 20/20 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Choroideremia | CHM | Duplication Exons 6-8 | XL |