A comparatively rare case of familial nystagmus is reported in a girl whose family tree was studied and the interest of which, apart from the need for greater involvement of health personnel and of school staff in campaigns for prevention of sight disturbances in infancy, was mainly related to the particular recessive trasmission bound to chromosome X with incomplete penetrance. The multiplicity of hereditary trasmission, in fact, explains the relative capricious expressivity of this pathological condition which should be born in mild in the event of genetic consultancy.
Morreale Bubella, R., Morreale Bubella, D., Carità, S., Di Giovanna, F., Lodato, G. (2007). Considerazioni su un caso di nistagmo familiare essenziale. MINERVA OFTALMOLOGICA, 49(4), 197-200.
Considerazioni su un caso di nistagmo familiare essenziale.
MORREALE BUBELLA, Raffaella;MORREALE BUBELLA, Daniele;
2007-01-01
Abstract
A comparatively rare case of familial nystagmus is reported in a girl whose family tree was studied and the interest of which, apart from the need for greater involvement of health personnel and of school staff in campaigns for prevention of sight disturbances in infancy, was mainly related to the particular recessive trasmission bound to chromosome X with incomplete penetrance. The multiplicity of hereditary trasmission, in fact, explains the relative capricious expressivity of this pathological condition which should be born in mild in the event of genetic consultancy.
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