Case
SR1702
Student Mode
Pseudoxanthoma Elasticum (IID2)
Male
Male
Hidden
SR1702
Student Mode
Pseudoxanthoma Elasticum (IID2)
Male
Male
History
This 45 year old man first noticed poor contrast sensitivity in dim light at about age 40. He later became aware of symmetrical blind spots near fixation in both eyes.
Pedigree
| Age at visit: 45 years |
| Age at visit: 46 years |
| Age at visit: 47 years |
| Age at visit: 48 years |
| Age at visit: 49 years |
| Age at visit: 50 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Pseudoxanthoma Elasticum | ABCC6 | Arg1141Stop CGA>TGA | Arg1141Stop CGA>TGA | AR |
Disease:
Gene:
Allele 1:
Arg1141Stop CGA>TGA
Allele 2:
Arg1141Stop CGA>TGA
Inheritance:
AR