Ocular complication in congenital erythropoietic porphyria

Ophthalmologica. 1996;210(3):183-5. doi: 10.1159/000310704.

Abstract

Congenital erythropoietic porphyria (CEP), classically known as "Günther disease', is an extremely rare autosomal recessively inherited disorder characterized by mutilating cutaneous photosensitivity and abnormal porphyrin heam biosynthesis in the bone marrow. So far there is no effective therapy for CEP. Because of severe cutaneous photosensitivity, treatment of CEP has mainly been focused upon the avoidance of sunlight and trauma of the skin to minimize skin symptoms. Recently we have encountered ocular complications, especially scleral involvement, in 5 CEP patients. From this point of view, we should pay attention not only to cutaneous symptoms but also to scleral involvement and ophthalmological examination is required to assess the quality of life of CEP patients.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Female
  • Humans
  • Male
  • Middle Aged
  • Porphyria, Erythropoietic / complications*
  • Porphyria, Erythropoietic / pathology
  • Quality of Life
  • Scleral Diseases / complications*
  • Scleral Diseases / pathology