Case
SR1400
Student Mode
Choroideremia (IIIA1)
Female
Female
Hidden
SR1400
Student Mode
Choroideremia (IIIA1)
Female
Female
History
This eight-year-old girl has anisometropic amblyopia. Fundus abnormalities were noticed incidentally during investigation of the amblyopia.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Choroideremia | CHM | Ser7 del12tcGGAGTTTGATGT | XL |