Progressive cone-rod dystrophy and high myopia in a Finnish family.
Progressive cone-rod dystrophy was diagnosed in a 35-year-old man (the proband). In the family study, 29 of the relatives were examined. The brother of the proband was also found to have cone-rod dystrophy. In the family of the mother of the proband, there were four men who had high myopia possibly connected with cone-rod dystrophy. The other relatives had no signs of cone-rod dystrophy or high myopia. The relatives not examined were reported healthy with no eye trouble. The disorder could be autosomal recessive hereditary if only the confirmed cone-rod dystrophy of the proband and his brother is taken in consideration. However, no relationships between the families of the mother and father of the proband could be found going back to the year 1830. Therefore, the autosomal recessive inheritance was not established. The most probable mode of inheritance would be X-chromosomal recessive if high myopia and cone-rod dystrophy are thought to be parts of the same syndrome.
Mäntyjärvi
M
M
Department of Ophthalmology, University of Kuopio, Finland.
Tuppurainen
K
K
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D003623:Dark Adaptation; D004596:Electroretinography; D005260:Female; D005387:Finland; D006801:Humans; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010786:Photoreceptor Cells / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000150:complications / Q000175:diagnosis / Q000235:genetics*