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  • Title: Variable severity in autosomal dominant optic atrophy.
    Author: Pearce WG.
    Journal: Ophthalmic Paediatr Genet; 1985 Feb; 5(1-2):99-102. PubMed ID: 4058878.
    Abstract:
    There are some indications in the literature on autosomal dominant optic atrophy that there are two genetic types - a congenital and a post-natal. This paper reviews the ocular findings of three affected members of a family with autosomal dominant optic atrophy - a father and two daughters - which appear to fit the criteria for a 'congenital' type of optic atrophy. Comparison with an additional 17 cases indicates that those with an early or congenital onset are at the more severe end of a distribution curve of involvement. The less severely affected patients were older and often had passed many years with little or no visual difficulties. Such variation is a recognized feature of autosomal dominant inheritance and is the basis for suggesting that there is probably only one genetic locus for autosomal dominant optic atrophy.
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