This 53 year old woman first noticed night blindness at age 18. More recently she has experienced constriction of her visual fields. She has worn hearing aids since childhood.
Age at visit: 53 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Type 2 Usher Syndrome | ADGRV1 | Arg211 del2ggcAG | IVS66-2 A>T | AR |