This 32 year old female had difficulty seeing in dim light and constricted peripheral vision at age 5. She had profound hearing loss noticed shortly after birth and received her first cohclear implant at age 9.
Age at visit: 32 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Type 1 Usher Syndrome | MYO7A | IVS4+2 T>C | IVS4+2 T>C | AR |