SR487
Type 1 Usher Syndrome (IB1a)
Female
Female
SR487
Type 1 Usher Syndrome (IB1a)
Female
Female
History
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 cochlear implant at age 9.
Pedigree
| Age at visit: 32 years |
Diagnosis & molecular findings
| 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 |
Disease:
Gene:
Allele 1:
IVS4+2 T>C
Allele 2:
IVS4+2 T>C
Inheritance:
AR