Case
SR1090
Student Mode
Choroideremia (IIIA1)
Female
Female
Hidden
SR1090
Student Mode
Choroideremia (IIIA1)
Female
Female
Visit at age: 36 years
Fundus Photography - Right - 20/15 sc
Exemplar
Fundus Photography - Left - 20/15 -1 sc
Exemplar
Goldmann Visual Field - Right - 20/15 sc
Exemplar
Goldmann Visual Field - Left - 20/15 -1 sc
Exemplar
Visit at age: 52 years
Fundus Photography - Right - 20/20 +3 sc
Exemplar
Fundus Photography - Left - 20/20 sc
Exemplar
Fundus Montage - Right - 20/20 +3 sc
Exemplar
Fundus Montage - Left - 20/20 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Choroideremia | CHM | Ser7 del12tcGGAGTTTGATGT | XL |