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 between a family living in England and Australia, 6 generations back 1 of the families reported as suffering from autosomal dominant inflammatory macular dystrophy (fundus dystrophy). The onset in the 5th decade of life and the progress of the condition, which usually ends in blindness, was observed in a number of patients and the prodromal development of a color vision deficiency in some of them confirmed. This defect is fundamentally different from the X-linked color vision defects and merits further investigation.