Case
SR467
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
Hidden
SR467
Student Mode
AR Retinitis Pigmentosa (IA1aiii)
Female
Female
History
This 42 year old woman had a fundus abnormality discovered on a routine eye exam at age 21. She currently has poor peripheral vision. She has a similarly affected brother.
Pedigree
| Age at visit: 42 years |
| OS | |||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Retinitis Pigmentosa | FAM161A | Arg523Stop CGA>TGA | Cys501 del1agaT | AR |
Disease:
Gene:
Allele 1:
Arg523Stop CGA>TGA
Allele 2:
Cys501 del1agaT
Inheritance:
AR