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Minerva Oftalmologica 2007 December;49(4):197-200

language: Italian

Notes on a case of essential familial nystagmus

Morreale Bubella R., Morreale Bubella D., Carità S., Di Giovanna F., Lodato G.

Dipartimento Universitario di Neuroscienze Cliniche Sezione di Oculistica Università degli Studi di Palermo, Palermo


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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 transmission bound to chromosome X with incomplete penetrance. The multiplicity of hereditary transmission, in fact, explains the relative capricious expressivity of this pathological condition which should be borne in mind in the event of genetic consultancy.

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