Case
SR274
Student Mode
Posterior Column Ataxia with Retinitis Pigmentosa (IB7a)
Female
Female
Hidden
SR274
Student Mode
Posterior Column Ataxia with Retinitis Pigmentosa (IB7a)
Female
Female
History
This 39 year old woman first experienced poor night vision when she was about 4 years old. She began to experience some abnormalities with her gate in her early 20's.
Pedigree
| Age at visit: 29 years |
| Age at visit: 34 years |
| Age at visit: 36 years |
| Age at visit: 39 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Posterior Column Ataxia with Retinitis Pigmentosa | FLVCR1 | Asn121Asp AAC>GAC | Asn121Asp AAC>GAC | AR |
Gene:
Allele 1:
Asn121Asp AAC>GAC
Allele 2:
Asn121Asp AAC>GAC
Inheritance:
AR