Dominantly inherited optic atrophy.

LEBER'S disease, with its sudden onset in adolescence or early adult life, its rapid course, and puzzling mode of inheritance, has overshadowed other forms of inherited optic atrophy. The early literature contained many cases of "atypical" Leber's disease, but the continued emphasis on the established form, even in the monumental review by Bell (1931), hampered the emergence of other forms as separate clinical entities. Waardenburg (1913) drew attention to the incidence of consanguinity in reported pedigrees of infantile optic atrophy suggestive of the existence of a recessive autosomal form. Rather more evidence for a dominant autosomal type is suggested by several reports in the early literature, such as the cases recorded by Knapp (1904), Lawson (1907), Nettleship (1909), Griscom (1921), Ginzburg (1923); Kawakami (1926), Alsberg (1927), Riedl (1935), and others; onset in childhood or infancy was common in such cases. Dominant optic atrophy is in fact not particularly uncommon; Lodberg and Lund (1950) have even suggested that in Denmark this type of optic atrophy is more common than Leber's disease. Recently attempts have been made to separate dominant optic atrophy into different forms. Thus Lodberg and Lund (1950) and Sorsby (1951) suggested a congenital and a post-natal form, while Jaeger (1954) suggested a third variety: dominant optic atrophy with nystagmus. The reports in the literature appear to fall into two main groups: (1) The type which has been referred to as " congenital" has been infrequently reported. The largest family in this group, with twelve affected members, is that reported by Thompson and Cashell (1935) and by Dorrell (1932), which, as pointed out by Sorsby (1951), is the same family as that previously described by Nettleship (1909). Other similar families are those of Herzog (1930) and one of the three reported by Lodberg and Lund (1950). Although the affection has not in fact been seen at birth, Dorrell observed optic atrophy at 8 months. Some of Nettleship's patients speak of good vision up to the age of 3 or 4 years, although this in itself does not preclude the existence of optic atrophy as a congenital lesion. Visual acuity in these three families ranged from 6/24 to hand movements, the poorer levels of vision being common. Progressive deterioration appears to have been experienced by some patients, as in two cases recorded by Lodberg and Lund. Divergent strabismus and contraction of the peripheral field were noted in some members of each of these three families. Thompson and Cashell observed nystagmus in nine out of ten cases; a generalized pallor of the optic disc