Case
SR1071
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
Hidden
SR1071
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
Visit at age: 15 years
Fundus Photography - Right - 20/20 -1 sc
Exemplar
Fundus Photography - Left - 20/20 sc
Exemplar
Fundus Montage - Right - 20/20 -1 sc
Exemplar
Fundus Montage - Left - 20/20 sc
Exemplar
Goldmann Visual Field - Right - 20/20 -1 sc
Exemplar
Goldmann Visual Field - Left - 20/20 sc
Exemplar
Optical Coherence Tomography - Right - 20/20 -1 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/20 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/20 -1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/20 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Choroideremia | CHM | Arg253Stop CGA>TGA | XL |