SR544

Type 3 Usher Syndrome (IB1c)

Male

Male

SR544

Type 3 Usher Syndrome (IB1c)

Male

Male

Highlighted Images

Age at visit: 67 years
OD OS

History

This 67 year old man first noticed reduced peripheral vision in grade school. He had mild hearing loss in kindergarten, but did not start wearing hearing aids until age 35.

Pedigree

Jewish ethnicity

Age at visit: 67 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Type 3 Usher Syndrome CLRN1 Asn48Lys AAT>AAG Asn48Lys AAT>AAG AR
Gene:
Allele 1:
Asn48Lys AAT>AAG
Allele 2:
Asn48Lys AAT>AAG
Inheritance:
AR
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