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  • Title: Familial optic atrophy with sex-influenced severity. A new variety of autosomal-dominant optic atrophy?
    Author: Gorgone G, Li Volti S, Cavallaro N, Conti L, Profeta GM, Mollica F.
    Journal: Ophthalmologica; 1986; 192(1):28-33. PubMed ID: 3703478.
    Abstract:
    A family is described with 20 members in three successive generations affected by optic atrophy without other ocular or extraocular manifestations. The anomaly was transmitted as an autosomal-dominant character. There was a clearly bimodal distribution of severity: 4 male patients complained of severe impairment of vision since childhood while 16 other subjects (7 males and 9 females) were completely asymptomatic. This family could be an example of a new variety of autosomal dominant optic atrophy characterized by sex-influenced severity.
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