Age at visit: 18 years | |
OD | OS |
---|---|
This 18 year old woman was noted to have nystagmus shortly after birth. She has no recollection of any formed vision at any time in her life.
Age at visit: 18 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Leber Congenital Amaurosis | NMNAT1 | Glu257Lys GAG>AAG | Chr1:10034708-10042182del | AR |