Case
SR2828
Student Mode
Type 2 Usher Syndrome (IB1b)
Male
Male
Hidden
SR2828
Student Mode
Type 2 Usher Syndrome (IB1b)
Male
Male
History
This 59 year old man first noticed poor night vision at age 10. His abnormal hearing was noticed shortly after birth and was correctable with hearing aids.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 2 Usher Syndrome | USH2A | Trp3521Arg TGG>CGG | Lys4077 del2aaAG | AR |
Disease:
Gene:
Allele 1:
Trp3521Arg TGG>CGG
Allele 2:
Lys4077 del2aaAG
Inheritance:
AR