Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: four-generation family with Rieger's syndrome.
Open Access
- 1 August 1983
- journal article
- research article
- Published by BMJ in British Journal of Ophthalmology
- Vol. 67 (8) , 529-534
- https://doi.org/10.1136/bjo.67.8.529
Abstract
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.This publication has 15 references indexed in Scilit:
- The Rieger syndrome.Journal of Medical Genetics, 1979
- Rieger's syndrome with pericentric inversion of chromosome 6.British Journal of Ophthalmology, 1979
- The Axenfeld syndrome and the Rieger syndrome.Journal of Medical Genetics, 1978
- The Rieger syndromeAmerican Journal of Medical Genetics, 1978
- Familial hypoplasia of the iris stroma associated with glaucoma.British Journal of Ophthalmology, 1969
- The Anterior Chamber Cleavage SyndromeArchives of Ophthalmology (1950), 1966
- HEREDITARY GLAUCOMA: OCCURRENCE IN FIVE GENERATIONS OF AN EDINBURGH FAMILYBritish Journal of Ophthalmology, 1964
- Etude des dimensions de la chambre antérieure de l’œil humainOphthalmologica, 1961
- Beiträge zur Kenntnis seltener Mißbildungen der IrisAlbrecht von Graefes Archiv für Ophthalmologie, 1934
- ERBLICHES JUGENDLICHES GLAUKOMActa Ophthalmologica, 1932