Log in Register Terms of Use
Join Teaching Session Search
StoneRounds Disease Atlas SR1899

SR1899

Grid View Download View

Pseudoxanthoma Elasticum (IID2)

Male

Male

SR1899

Grid View Download View

Pseudoxanthoma Elasticum (IID2)

Male

Male

Highlighted Images

Age at visit: 51 years
OD OS
20/15 -2
20/15 -2

History

This 51 year old man had fundus abnormalities noticed on an incidental eye exam at age 45.

Pedigree

Age at visit: 49 years
Age at visit: 51 years
Age at visit: 61 years
Age at visit: 61 years (Visit 2)
Age at visit: 62 years
Age at visit: 62 years (Visit 2)
Age at visit: 62 years (Visit 3)
Age at visit: 63 years
Age at visit: 63 years (Visit 2)
Age at visit: 63 years (Visit 3)
Age at visit: 63 years (Visit 4)
Age at visit: 63 years (Visit 5)
Age at visit: 64 years
Age at visit: 64 years (Visit 2)
Age at visit: 64 years (Visit 3)
Age at visit: 64 years (Visit 4)
Age at visit: 64 years (Visit 5)
Age at visit: 64 years (Visit 6)
Age at visit: 65 years
Age at visit: 65 years (Visit 2)
Age at visit: 65 years (Visit 3)
Age at visit: 65 years (Visit 4)
Age at visit: 66 years
Age at visit: 67 years
Age at visit: 68 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Pseudoxanthoma Elasticum ABCC6 Arg1141Stop CGA>TGA Arg1398Stop CGA>TGA AR
Disease:
Pseudoxanthoma Elasticum
Gene:
ABCC6
Allele 1:
Arg1141Stop CGA>TGA
Allele 2:
Arg1398Stop CGA>TGA
Inheritance:
AR
Cite this case