Case
SR51
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
Hidden
SR51
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
Visit at age: 16 years
Fundus Photography - Right - 20/16
Exemplar
Fundus Photography - Left - 20/16
Exemplar
Fundus Montage - Right - 20/16
Exemplar
Fundus Montage - Left - 20/16
Exemplar
Goldmann Visual Field - Right - 20/16
Exemplar
Goldmann Visual Field - Left - 20/16
Exemplar
Optical Coherence Tomography - Right - 20/16
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/16
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/16
Exemplar
Infrared Fundus Photograph - Left - 20/16
Exemplar
Visit at age: 17 years
Goldmann Visual Field - Right - 20/20
Exemplar
Goldmann Visual Field - Left - 20/16
Exemplar
Optical Coherence Tomography - Right - 20/20
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/16
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20
Exemplar
Infrared Fundus Photograph - Left - 20/16
Exemplar
Visit at age: 20 years
Goldmann Visual Field - Right - 20/20
Exemplar
Goldmann Visual Field - Left - 20/20
Exemplar
Optical Coherence Tomography - Right - 20/20
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20
Exemplar
Infrared Fundus Photograph - Left - 20/20
Exemplar
Visit at age: 22 years
Goldmann Visual Field - Right - 20/20 -1
Exemplar
Goldmann Visual Field - Left - 20/20
Exemplar
Optical Coherence Tomography - Right - 20/20 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -1
Exemplar
Infrared Fundus Photograph - Left - 20/20
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Choroideremia | CHM | Phe257 del2gagTT | XL |