This 46 year old man had his first retinal detachment at age 18, and now has scleral buckles in both eyes.
Age at visit: 51 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Stickler Syndrome | COL2A1 | Gln39Stop CAG>TAG | AD |