Case
SR1092
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
Hidden
SR1092
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
History
This 35 year old man has experienced poor vision in dim light for at least 10 years. He has been taking 25000 international units of vitamin A daily for the past year.
Pedigree
| Age at visit: 33 years |
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Choroideremia | CHM | Deletion Exons 9-11 | XL |