Case
SR2291
Student Mode
Pseudoxanthoma Elasticum (IID2)
Female
Female
Hidden
SR2291
Student Mode
Pseudoxanthoma Elasticum (IID2)
Female
Female
History
This 44 year old woman noticed a small, blurred area in the central vision of her left eye. She has some abnormal findings on her skin that revealed PXE histopathologically earlier in her life.
Pedigree
| Age at visit: 32 years |
| Age at visit: 37 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Pseudoxanthoma Elasticum | ABCC6 | Asn370Asp AAC>GAC | Arg1221Cys CGC>TGC | AR |
Disease:
Gene:
Allele 1:
Asn370Asp AAC>GAC
Allele 2:
Arg1221Cys CGC>TGC
Inheritance:
AR