Ocular involvement in two symptomatic congenital erythropoietic porphyria

Abstract

Congenital erythropoietic porphyria (Gunther disease, CEP) is a rare autosomal recessive disorder of haeme biosynthesis. It is characterized by extreme photosensitivity and the excretion of large amounts of uroporphyrin I and coproporphyrin I in the urine and coproporphyrin I in the faeces. We have diagnosed two cases of congenital erythropoietic porphyria, who were first cousins once removed. They had recurrent skin bullae, scarring on the face and hands, hirsutism, discoloured fluorescent teeth, red urine, increased haemolysis and grossly increased excretion of porphyrin. Both children had blepharitis and their sclera gave pink fluorescence under long wave ultraviolet light, mainly in the interpalpebral fissures. All the features of our two patients, except the ocular lesions, conformed to cases of CEP resported in the literature. We have encountered no other reports on ocular lesions in CEP since first described by Chumbley in 1977.