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.

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	British journal of ophthalmology 1989-05, Vol.73 (5), p.394-396
Hauptverfasser:	Johnson, L N, Hepler, R S
Format:	Artikel
Sprache:	eng
Schlagworte:	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
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	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.
ISSN:	0007-1161 1468-2079
DOI:	10.1136/bjo.73.5.394