Age at visit: 10 years | |
OD | OS |
---|---|
This 10 year old female has had no light perception in either eye since birth. She is otherwise healthy.
Age at visit: 5 years |
Age at visit: 10 years |
Age at visit: 13 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Leber Congenital Amaurosis | CEP290 | Lys127 del4aaAGAT | IVS26+1655 A>G | AR |