Case
SR2251
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
Hidden
SR2251
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
History
This 28 year old man noticed some constriction of his peripheral vision and some difficulty seeing in dim light at age 19.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Choroideremia | CHM | Ser445Stop TCA>TGA | XL |