6533b826fe1ef96bd12842a4
RESEARCH PRODUCT
Considerazioni su un caso di nistagmo familiare essenziale.
Raffaella Morreale BubellaDaniele Morreale BubellaS CaritàF Di GiovannaG. Lodatosubject
Settore MED/30 - Malattie Apparato VisivoNystagmusgenetics quality of life.description
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2007-01-01 |