Corectopia and lipoid proteinosis.
Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessive disorder associated with deposition of hyalinised material in the skin, mucous membrane, and brain. Corectopia has not been described in this disorder. A case is presented of lipoid proteinosis with bilateral corectopia.
Johnson
L N
LN
Neuro-Ophthalmology Unit, Milton S Hershey Medical Center, Pennsylvania State University, Hershey 17033.
Hepler
R S
RS
D000328:Adult; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008064:Lipidoses / Q000150:complications*; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000150:complications*; D008297:Male