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EIGHT CASES OF CONGENITAL ACHROMATOPSIA WITH AMBLYOPIA IN TWO PEDIGREES FROM NORTHERN SWEDEN
Author(s) -
POLLAND WERNER,
NORDSTRÖM STEFAN
Publication year - 1979
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.1755-3768.1979.tb00514.x
Subject(s) - achromatopsia , pedigree chart , pallor , astigmatism , color vision defects , sister , pediatrics , medicine , optometry , ophthalmology , genetics , biology , color vision , gene , retinal , physics , sociology , computer science , anthropology , optics , computer vision
Two families from northern Sweden with a total of 8 patients with typical symptoms of congenital achromatopsia with amblyopia were studied. In one of the families 4 affected children (3 brothers and 1 sister) also showed pallor of the optic discs and marked astigmatism. The transmission of the disease was consistent with an autosomal recessive inheritance in both families. The study confirmed that complete and incomplete achromatopsia might be different expressions of the same gene. Six out of 13 near relatives of the achromatic patients showed minor colour vision defects, suggesting a tendency towards heterozygotic manifestation of the gene.