OCULAR INVOLVEMENT IN 2 SYMPTOMATIC CONGENITAL ERYTHROPOIETIC PORPHYRIA

Congenital erythropoietic porphyria (Gunther disease, CEP) is a rare a utosomal recessive disorder of haeme biosynthesis. It is characterized by extreme photosensitivity and the excretion of large amounts of uro porphyrin I and coproporphyrin I in the urine and coproporphyrin I in the faeces. We have diagnosed two cases of congenital erythropoietic p orphyria, who were first cousins once removed. They had recurrent skin bullae, scarring on the face and hands, hirsutism, discoloured fluore scent teeth, red urine, increased haemolysis and grossly increased exc retion of porphyrin. Both children had blepharitis and their sclera ga ve 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 reported in the literatu re. We have encountered no other reports on ocular lesions in CEP sinc e first described by Chumbley in 1977.