Case
SR544
Student Mode
Type 3 Usher Syndrome (IB1c)
Male
Male
Hidden
SR544
Student Mode
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 |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | |||
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| OD | OS | ||
|---|---|---|---|
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 |
Disease:
Gene:
Allele 1:
Asn48Lys AAT>AAG
Allele 2:
Asn48Lys AAT>AAG
Inheritance:
AR