SR65
Pseudoxanthoma Elasticum (IID2)
Female
Female
SR65
Pseudoxanthoma Elasticum (IID2)
Female
Female
History
This 58 year old woman has experienced mild metamorphopsia in the left greater than the right for the last five years. She has had unusual findings on the skin of her neck since childhood.
Pedigree
| Age at visit: 41 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 53 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 54 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 57 years |
| Age at visit: 58 years |
| Age at visit: 60 years |
| Age at visit: 64 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Pseudoxanthoma Elasticum | ABCC6 | Gly928 del4tacGGCA | IVS21+1 G>T | AR |
Disease:
Gene:
Allele 1:
Gly928 del4tacGGCA
Allele 2:
IVS21+1 G>T
Inheritance:
AR