[Corneoscleral involvement in congenital erythropoietic porphyria. Günther disease].
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.
Arné
J-L
JL
Service d'Ophtalmologie, Hôpital Purpan, Place du Docteur Baylac, 31059 Toulouse Cedex 9.
Depeyre
C
C
Lesueur
L
L
D000328:Adult; D003228:Conjunctiva / Q000473:pathology; D003316:Corneal Diseases / Q000150:complications* / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D017092:Porphyria, Erythropoietic / Q000150:complications* / Q000235:genetics; D015422:Scleral Diseases / Q000150:complications* / Q000235:genetics