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.

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Veröffentlicht in:British journal of ophthalmology 1989-05, Vol.73 (5), p.394-396
Hauptverfasser: Johnson, L N, Hepler, R S
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container_title British journal of ophthalmology
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creator Johnson, L N
Hepler, R S
description 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.
doi_str_mv 10.1136/bjo.73.5.394
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source MEDLINE; EZB-FREE-00999 freely available EZB journals; PubMed Central; Alma/SFX Local Collection
subjects Adult
Biological and medical sciences
Errors of metabolism
Humans
Iris - abnormalities
Lipidoses - complications
Lipoid Proteinosis of Urbach and Wiethe - complications
Male
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
title Corectopia and lipoid proteinosis
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