Familial Bilateral Optic Nerve Hypoplasia

Bilateral optic nerve hypoplasia affected five individuals corresponding to four generations of a family. Two decreased men were also apparently affected. The three patients studied, two women and a girl, presented the same clinical picture: poor visual acuity; small, pale and malformed papilla; two concentric peripapillary halos; and wandering movements of the eyes. Fluorescein angiography performed in the propositus mother showed a faint papillary fluorescence. At variance with the two familial cases reported, the pedigree clearly suggest an autosomal dominant type of inheritance. Similar clinical features found in other patients suggest a stationary nature of the defect.