Eine seltene Art des hereditären Nystagmus mit autosomal-dominantem Erbgang und besonderem Erscheinungsbild: Vertikale Nystagmuskomponente und Störung des vertikalen und horizontalen optokinetischen Nystagmus

Publisher Website
Google Scholar
Abstract
A family consisting of 40 members embracing 4 generations, 15 of whom have a hereditary congenital nystagmus, was examined electronystagmographycally and neurologically. The nystagmus in this pedigree shows the characteristics of autosomal dominant inheritance. It is transmitted 6 times from father to son, 4 times from father to daughter, twice from mother to son and twice from mother to daughter. Nine males and 6 females are affected. This kind of inheritance is rare. The penetrance is strong. The continuity of the phenotypical expression of the sign in the ancestry is complete. The nystagmus has an unusual form: In contrast to most cases of hereditary nystagmus which beats solely in a horizontal direction, it has an important vertical component. Moreover, besides the disturbance of horizontal optokinetic nystagmus usually accompanying the congenital nystagmus, there is also a severe disturbance of the vertical optokinetic nystagmus. This has not previously been described in hereditary nystagmus. It is supposed that it is a genetically and pathophysiologic-ally special and rare form of congenital nystagmus. In the literature there is only 1 other pedigree with similar nystagmus and autosomal dominant inheritance.

This publication has 2 references indexed in Scilit: