Case
SR447
Student Mode
Type 1 Usher Syndrome (IB1a)
Female
Female
Hidden
SR447
Student Mode
Type 1 Usher Syndrome (IB1a)
Female
Female
History
This 46 year old woman first noticed some constriction of her visual field at age 14.
Pedigree
| Age at visit: 46 years |
| OD | |||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 1 Usher Syndrome | PCDH15 | Arg245Stop CGA>TGA | Arg245Stop CGA>TGA | AR |
Disease:
Gene:
Allele 1:
Arg245Stop CGA>TGA
Allele 2:
Arg245Stop CGA>TGA
Inheritance:
AR