Case
SR1603
Student Mode
Type 2 Usher Syndrome (IB1b)
Male
Male
Hidden
SR1603
Student Mode
Type 2 Usher Syndrome (IB1b)
Male
Male
History
This 59 year old man first noted constriction of his visual field in his mid 40's. He has had poor hearing since his teens and has worn hearing aids since that time. He was diagnosed with leukemia in his 30's and received a bone marrow transplant from his sister (who also has hearing loss and constricted visual fields).
Pedigree
| Age at visit: 59 years |
| Age at visit: 60 years |
| Age at visit: 62 years |
| Age at visit: 66 years |
| Age at visit: 68 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 2 Usher Syndrome | USH2A | Cys536Arg TGC>CGC | IVS43-9 A>G | AR |
Disease:
Gene:
Allele 1:
Cys536Arg TGC>CGC
Allele 2:
IVS43-9 A>G
Inheritance:
AR