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. |
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Refraction OD: | -3.00 +0.50 x 180 |
Refraction OS: | -3.00 + 0.25 x 175 |
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.
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Pseudoxanthoma Elasticum | ABCC6 | Arg1141Stop CGA>TGA | Arg1141Stop CGA>TGA | AR |