[Corneoscleral involvement in congenital erythropoietic porphyria. Günther disease].

Abstract

Congenital erythropoietic porphyria (CEP) is an extremely rare autosomal recessively inherited disorder characterized by mutilating cutaneous photosensitivity and abnormal porphyrin heme synthesis in bone marrow. The present report describes a typical case of CEP with cornea involvement and scleromalacia in areas exposed to sunlight. The results obtained by conjunctival impression cytology are reported.

• Authors: J-L Arné, C Depeyre, L Lesueur
• Journal: Journal francais d'ophtalmologie (J Fr Ophtalmol) Vol. 26 Issue 5 Pg. 498-502 (May 2003) ISSN: 0181-5512 [Print] France
• Vernacular Title: Atteinte cornéo-sclérale au cours de la porphyrie érythropoïétique congénitale. Maladie de Günther.
• PMID: 12819610 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Adult
• Conjunctiva (pathology)
• Corneal Diseases (complications, genetics)
• Female
• Genes, Recessive
• Humans
• Porphyria, Erythropoietic (complications, genetics)
• Scleral Diseases (complications, genetics)