Disc oedema in congenital amaurosis of Leber.

Since it was first described by Theodor Leber as 'pigmentary retinitis with congenital amaurosis' (Leber, I867), the entity which bears his name has been the subject of sporadic reports defining its clinical and pathological characteristics. It accounted for about io per cent of the blindness in Sweden (Alstrom and Olsen, 1957) and i8 per cent among children in a series in Holland (SchappertKimmijser, Henkes, and van den Bosch, I959). The former report established its recessive inheritance pattern, first suspected by Leber, while the latter spelled out in detail its clinical findings. Other synonyms by which it is known reflect various concepts of its pathogenesis (Sorsby and Williams, 1960; Waardenburg, I957)-for example, retinal aplasia or neuroepithelial dysgenesis. Pathological material has been scant and varied. Sorsby's case (Sorsby and Williams, I960) showed atrophy of all retinal layers. Other authors (Aubineau, 1903; Vrabec, I951I; Babel, I963; Gillespie, I966; Horsten and Winkelman, I960) found the neuroepithelium to be markedly affected with the rods and cones barely recognizable and the pigment epithelium proliferated. Kroll and Kuwabara (I964), in an electron microscopic study of a case, found an absence of rods, cones devoid of outer segments with short inner segments, and a few abnormal mitochondria. The pigment epithelium itself was reduced in height and contained large, round, irregular inclusion bodies. The various ophthalmological findings have been reviewed in detail (Dekaban and Carr, I964; Krill, I968; Karel, Brachfield, Styblovai, and Sedlachoua', I967; Edwards, Price, and McDonald, I97I). Infants may be blind or nearly blind with a remarkably normal fundus appearance. Often pale discs, attenuated retinal vessels, and a fine 'pepper-and-salt' granularity of the pigment epithelium are noted. As the child grows older retinitis pigmentosa-like changes