| Literature DB >> 1115199 |
Y Hackenbruch, E Meerhoff, R Besio, H Cardoso.
Abstract
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.Entities:
Mesh:
Year: 1975 PMID: 1115199 DOI: 10.1016/0002-9394(75)90088-4
Source DB: PubMed Journal: Am J Ophthalmol ISSN: 0002-9394 Impact factor: 5.258