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NYSTAGMOGRAPHICAL STUDIES IN ALAND EYE DISEASE
Author(s) -
VLIET A. G. M.,
WAARDENBURG P. J.,
FORSIUS H.,
ERIKSSON A. W.
Publication year - 1973
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.1973.tb06047.x
Subject(s) - nystagmus , penetrance , disease , medicine , audiology , genetics , biology , pathology , gene , phenotype
An extensive electronystagmographical examination was made of 25 members of a family with Åland eye disease (Forsius‐Eriksson syndrome). It appears that the nystagmus belongs to the syndrome of latent nystagmus. Out of seven investigated male subjects with Åland eye disease, five showed classical latent nystagmus and two had slight manifestations of latent nystagmus. Of nine investigated female subjects, only two revealed a very slight latent nystagmus. According to our studies we can postulate two modes by which latent nystagmus could have been inherited in this family:1 an X‐chromosomal dominant type of transmission with decreased or lack of penetrance in a number of female carriers; 2 a recessive X‐chromosomal transmission with slight nystagmus as a sign of heterozygosity in the female carriers.The combination of latent nystagmus with the X‐chromosomal Åland eye disease may be explained by pleiotropic gene action.