Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: four-generation family with Rieger's syndrome.
A family extending over 4 generations showed iridogoniodysgenesis accompanied by somatic malformations inherited in an autosomal dominant fashion. Iridogoniodysgenesis was present in 10 members, of whom 5 had established glaucoma; 4 youthful members are likely to develop glaucoma. Somatic malformations were present in 5 members from the 3rd and 4th generations who did not manifest iridogoniodysgenesis. A possible polygenic basis is discussed, though the variable expression of an autosomal dominant inheritance is still the more likely explanation.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D005799:Genes, Dominant; D005901:Glaucoma / Q000235:genetics*; D006801:Humans; D007499:Iris Diseases / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013008:Somatotypes; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics; D014472:Umbilicus / Q000002:abnormalities