Hereditary macular degeneration—a population survey in the county of V?sterbotten, Sweden

摘要

From a total of 21 probands, found mainly by a thorough study of case records at the department of Ophthalmology, the University Hospital, Umeå, a total of 95 cases of hereditary macular degeneration were traced by genealogical and clinical investigations in the county of Västerbotten, Sweden. 75 of the cases belong to the same family, with a total of 125 affected members, 65 men and 60 women. 23, however, were dead, and 27 had left the county when the survey was finished. The disease has been traced back to a settler who came from Dalecarlia, and he is probably related to a Dalecarlian family with hereditary macular degeneration described by Barkman in 1961. The family is presented in three pedigrees. The defect is inherited as an autosomal dominant trait with a very high but not complete penetrance and a very variable expressivity. Age of onset of the deterioration of sight varies from early childhood to more than 50 years. 20 of the 95 cases belong to some smaller, separate families with varying heredity, presented in nine pedigrees. Seven cases, representing all known patients with a condition resembling hereditary macular degeneration for which no heredity could be proved are also presented.