Case
SR1090
Student Mode
Choroideremia (IIIA1)
Female
Female
Hidden
SR1090
Student Mode
Choroideremia (IIIA1)
Female
Female
Highlighted Images
| Age at visit: 36 years | |
| OD | OS |
|---|---|
History
This 36-year-old woman had fundus abnormalities noted incidentally earlier this year.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Choroideremia | CHM | Ser7 del12tcGGAGTTTGATGT | XL |