On a case of G?nther congenital porphyria with late ophthalmic complications, the authors study clinical and haematological manifestations of this disease (clinical signs are related to light sensibilisation: sclerodactily, hyperpigmentation, non cicatrisating wounds, long standing scars of reposed areas; they begin in the early childhood by hemolytic anemia and emission of dark port urines too). The various porphyries are then studied and their ophthalmologic signs are related either to the light sensibilisation either to angiopathy and neuropathy (acute porphyria). These are always spontaneously reversible after the acute onset; on the contrary, light sensibilisation involvements go worth and worth and in some cases (G?nther disease; late cutaneous porphyria) induce irreversible damages: they begin by eyelids and conjunctival scars then involve scleral and corneal tissues (scleral malacia perforans). In fact, they have a bad prognosis: ophthalmologic surgical repair, after a little success, fails, because of the non cicatrisating tissues. Best treatment is preventive: --in case of light sensibilisation: eviction of sunlight or light sensibilisating drugs; --in case of acute porphyria: eviction of some drugs (barbiturates); surgical action.
Adolescent Adult