SR548

Type 1 Usher Syndrome (IB1a)

Female

Female

SR548

Type 1 Usher Syndrome (IB1a)

Female

Female

Highlighted Images

Age at visit: 32 years
OD OS

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
Age at visit: 34 years
Age at visit: 38 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
Gene:
Allele 1:
IVS27-1 G>C
Allele 2:
Met946 del1atG
Inheritance:
AR
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