This 53 year old woman first came to medical attention at age 25 when she was diagnosed with Hodgkin's Disease that was successfully treated with radiation. She began to notice constricted peripheral vision about 5 years later (age 30). She has had reduced hearing since a bout of chicken pox in infancy.
Age at visit: 53 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Type 2 Usher Syndrome | USH2A | Glu767 del1tgtG | IVS29+1287 del1gA | AR |