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A GENETIC STUDY OF CONGENITAL HEREDITARY MACULAR DEGENERATION IN THE COUNTY OF VäSTERBOTTEN, SWEDEN
Author(s) -
NORDSTRöM S.,
HOLMGREN G.,
THORBURN W.
Publication year - 1972
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.1972.tb05981.x
Subject(s) - pedigree chart , penetrance , expressivity , macular degeneration , inheritance (genetic algorithm) , degeneration (medical) , medicine , disease , pediatrics , genetics , ophthalmology , biology , pathology , gene , phenotype
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.