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Autosomal dominant stationary night-blindness. A large family rediscovered.

Authors :
Rosenberg T
Haim M
Piczenik Y
Simonsen SE
Source :
Acta ophthalmologica [Acta Ophthalmol (Copenh)] 1991 Dec; Vol. 69 (6), pp. 694-702.
Publication Year :
1991

Abstract

In 1909, 2 years after the famous publication by Nettleship, a large family with congenital stationary night-blindness of the 'Nougaret type' was published by the Danish district surgeon, Sigurd Rambusch. In 1990 the 'Rambusch family', still resident in the original area, was sought out and rediscovered, at which time the reconstructed part of the pedigree comprised more than 200 affected persons in 11 generations. Dark adaptometry and electroretinography were performed on a few affected family members, including a descendant with a uniocular affection. The pedigree is presented and recordings of dark adaptation courses and electroretinographical responses from a few family members are demonstrated.

Details

Language :
English
ISSN :
0001-639X
Volume :
69
Issue :
6
Database :
MEDLINE
Journal :
Acta ophthalmologica
Publication Type :
Academic Journal
Accession number :
1789082
Full Text :
https://doi.org/10.1111/j.1755-3768.1991.tb02046.x