A GENETIC STUDY OF CONGENITAL HEREDITARY MACULAR DEGENERATION IN THE COUNTY OF VäSTERBOTTEN, SWEDEN

Abstract

Two pedigrees of two separate families are presented. In one of them, hereditary macular degeneration was confirmed in 24 out of 43 cases examined ophthalmologically. They belonged to 3 generations. By means of the parish catechetical meeting examination records, it has ‐ to a rather high degree of accuracy ‐ been possible to follow the disease back another 4 generations to the 18th century. In the other family, there were 6 patients with congenital macular degeneration. It was only possible to follow the disease in 5 generations because of illegitimacy. The mode of inheritance in both families is autosomal dominant with high penetrance and varied expressivity.

THE ERG c‐WAVE IN VITELLIRUPTIVE MACULAR DEGENERATION (VMD)

“…Very thorough reviews may be found elsewhere (Deutman 1971;Krill 1977). A Swedish pedigree with VMD was described by Barkman (1961); Nordstrom et al (1972) and others.…”