This 51 year old man had fundus abnormalities noticed on an incidental eye exam at age 45.
Age at visit: 61 years |
Age at visit: 62 years (Visit 2) |
Age at visit: 63 years (Visit 3) |
Age at visit: 63 years (Visit 5) |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Pseudoxanthoma Elasticum | ABCC6 | Arg1141Stop CGA>TGA | Arg1398Stop CGA>TGA | AR |