SR487

Type 1 Usher Syndrome (IB1a)

Female

Female

SR487

Type 1 Usher Syndrome (IB1a)

Female

Female

Highlighted Images

Age at visit: 32 years
OD OS

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 cohclear implant at age 9.

Pedigree

Age at visit: 32 years
Age at visit: 33 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
Gene:
Allele 1:
IVS4+2 T>C
Allele 2:
IVS4+2 T>C
Inheritance:
AR
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