Case
SR1188
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
Hidden
SR1188
Student Mode
XL Choroideremia (IIIA1a)
Male
Male
History
This 6 year old boy's parents noticed that he is more cautious than his siblings ever since he started to walk. They feel his peripheral vision and night vision are both poor. Both his and his mother's mother have "mud spattered" findings in their retinas. His great grandfather had "tunnel vision" in his 30's.
Pedigree
| Age at visit: 6 years |
| Age at visit: 6 years (Visit 2) |
| Age at visit: 7 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Choroideremia | CHM | Deletion Exon 12 | XL |