Amaurosis congenita (Leber)

A case of Leber's amaurosis congenita is presented. The patient was bilaterally and congenitally blind. She had nonrecordable ERG responses and a striking fundus appearance with multiple irregularly shaped yellowish white flecks deep in the retina, peripheraly distributed over an area extending from behind the equator to the ora serrata. No flecks were present in narrow bands on both sides of the retinal vessels and in the whole nasal portion of the fundus. Fine powdery granules of pigment were diffusely spread in the areas that were devoid of flecks. The macula and the optic disc showed no gross abnormality. Although this fundus appearance resembles that of the flecked retina syndrome and Oguchi's disease, retinal function in this case is more profoundly affected than in either of the two.