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.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005133:Eye Movements; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D008875:Middle Aged; D009900:Optic Nerve / Q000002:abnormalities* / Q000000981:diagnostic imaging; D010375:Pedigree; D011859:Radiography; D012025:Reflex, Pupillary; D013285:Strabismus / Q000209:etiology; D014792:Visual Acuity