Case
SR2289
Student Mode
Pseudoxanthoma Elasticum (IID2)
Male
Male
Hidden
SR2289
Student Mode
Pseudoxanthoma Elasticum (IID2)
Male
Male
History
This 44 year old man first noted a slight reduction in acuity and some difficulty seeing in dim light at age 39.
Pedigree
| Age at visit: 44 years |
| Age at visit: 44 years (Visit 3) |
| Age at visit: 44 years (Visit 8) |
| Age at visit: 49 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Pseudoxanthoma Elasticum | ABCC6 | Arg1141Stop CGA>TGA | Deletion Exon 23-29 | AR |
Disease:
Gene:
Allele 1:
Arg1141Stop CGA>TGA
Allele 2:
Deletion Exon 23-29
Inheritance:
AR