Case
SR2274
Student Mode
Pseudoxanthoma Elasticum (IID2)
Male
Male
Hidden
SR2274
Student Mode
Pseudoxanthoma Elasticum (IID2)
Male
Male
History
This 23 year old asymptomatic man had some fundus abnormalities noted on a routine eye exam.
| Color Vision: | Correctly identified all 14 ishihara plates OU. |
|---|---|
| Refraction OD: | -3.00 +0.50 x 180 |
| Refraction OS: | -3.00 + 0.25 x 175 |
Pedigree
Teaching Points
The clinical features favoring the diagnosis of ABCC6-associated autosomal recessive pseudoxanthoma elasticum include: angioid streaks radiating from the disk OU; peau d'orange stippling temporal to the fovea OU; "plucked chicken" skin abnormalities on his neck and normally sighted parents.
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