Case
SR1733
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
Hidden
SR1733
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
History
This 21 year old man first noticed some night blindness about 10 years ago. More recently he feels that his visual fields are a bit constricted.
Pedigree
| Age at visit: 21 years |
| Age at visit: 22 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Choroideremia | CHM | Gln448Stop CAA>TAA | XL |