Case
SR548
Student Mode
Type 1 Usher Syndrome (IB1a)
Female
Female
Hidden
SR548
Student Mode
Type 1 Usher Syndrome (IB1a)
Female
Female
History
This 32 year old woman had retinal abnormalities discovered on routine examination at age 12. She wore hearing aids until the first grade. Cochlear implants were considered at that time, but not pursued.
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 | IVS27-1 G>C | Met946 del1atG | AR |
Disease:
Gene:
Allele 1:
IVS27-1 G>C
Allele 2:
Met946 del1atG
Inheritance:
AR