OCULAR COMPLICATION IN CONGENITAL ERYTHROPOIETIC PORPHYRIA

Congenital erythropoietic porphyria (CEP), classically known as 'Gunth er disease', is an extremely rare autosomal recessively inherited diso rder characterized by mutilating cutaneous photosensitivity and abnorm al porphyrin heam biosynthesis in the bone marrow. So far there is no effective therapy for CEP. Because of severe cutaneous photosensitivit y, treatment of CEP has mainly been focused upon the avoidance of sunl ight and trauma of the skin to minimize skin symptoms. Recently we hav e 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 ophthal mological examination is required to assess the quality of life of CEP patients.