title: Probable common origin of a hereditary fundus dystrophy (Sorsby's familial pseudoinflammatory macular dystrophy) in an English and Australian family.
abstract: 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.
mesh_terms: D000368:Aged; D001315:Australia; D003117:Color Vision Defects / Q000150:complications / Q000235:genetics*; D004739:England; D005260:Female; D006801:Humans; D008268:Macular Degeneration / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012162:Retinal Degeneration / Q000235:genetics*