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.
Age at visit: 6 years |
Age at visit: 6 years (Visit 2) |
Age at visit: 7 years |
OD | OS | ||
---|---|---|---|
OD | OS | ||
---|---|---|---|
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
XL Choroideremia | CHM | Deletion Exon 12 | XL |