Case
SR83
Student Mode
Posterior Column Ataxia with Retinitis Pigmentosa (IB7a)
Male
Male
Hidden
SR83
Student Mode
Posterior Column Ataxia with Retinitis Pigmentosa (IB7a)
Male
Male
History
This 33 year old man has had poor night vision since childhood and began to notice a constriction of his visual field in his teens. He remembers being in a health class in 6th grade and being unable to feel his own pulse when the other children were able to do so easily.
Pedigree
| Age at visit: 28 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 31 years |
| Age at visit: 33 years |
| Age at visit: 36 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
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