Probable common origin of a hereditary fundus dystrophy (Sorsby's familial pseudoinflammatory macular dystrophy) in an English and Australian family.
نویسندگان
چکیده
A genealogical link was established six generations back between a family living in England and Australia, and one of the families reported originally by Sorsby et al (1949) as suffering from autosomal dominant inflammatory macular dystrophy (fundus dystrophy). The onset--in the fifth decade of life--and the progress of the condition, which usually ends in blindness, has been observed in a number of patients and the prodromal development of a colour vision deficiency in some of them confirmed. This defect is fundamentally different from the X-linked colour vision defects and merits further investigation.
منابع مشابه
Sorsby's pseudoinflammatory macular dystrophy.
Forty-three additional members of a family described originally by Sorsby and Mason have been examined in order to typify pseudoinflammatory macular dystrophy more accurately. Six new affected members were identified by history alone and a further 7 were examined. Vision is lost from disciform macular degeneration generally during the 5th decade of life. Thereafter peripheral degeneration occur...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 13 4 شماره
صفحات -
تاریخ انتشار 1976