Case
SR643
Student Mode
Type 2 Usher Syndrome (IB1b)
Female
Female
Hidden
SR643
Student Mode
Type 2 Usher Syndrome (IB1b)
Female
Female
History
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.
Pedigree
| Age at visit: 53 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 2 Usher Syndrome | USH2A | Glu767 del1tgtG | IVS29+1287 del1gA | AR |
Disease:
Gene:
Allele 1:
Glu767 del1tgtG
Allele 2:
IVS29+1287 del1gA
Inheritance:
AR