Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset (original) (raw)
Summary
This paper presents some characteristics of the population genetics of primary congenital glaucoma in Slovakia. The overall in cidence in Slovakia is 1:10,500, while being 1:1,250 in the Gypsy subpopulation of Slovakia and 1:22,000 in the non-Gypsy population. For a special type of congenital primary glaucoma, transmitted by autosomal recessive inheritance in Gypsies the gene frequency may be estimated to reach 2.8%. Early onset of the disease enabling diagnosis soon after birth in 82% of patients may be considered another characteristic of this type of primary congenital glaucoma.
Access this article
Subscribe and save
- Get 10 units per month
- Download Article/Chapter or eBook
- 1 Unit = 1 Article or 1 Chapter
- Cancel anytime Subscribe now
Buy Now
Price excludes VAT (USA)
Tax calculation will be finalised during checkout.
Instant access to the full article PDF.
Similar content being viewed by others
References
- Anderson RJ (1939) Hydrophthalmia or congenital glaucoma. Cambridge University Press, London
Book Google Scholar - Briard ML, Feingold J, Kaplan J, Bonaiti C, Aron JJ, Blanck MF, Delthil S, Frezal J (1976) Genetique du glaucoma congenital: une etude portant sur 231 cas. J Genet Hum 24:107–123
PubMed Google Scholar - Delmarcelle Y (1957) Considérations sur l'hérédité de glaucome infantile. J Genet Hum 6:33–48
CAS PubMed Google Scholar - Demenais F, Bonaiti C, Briard ML, Feingold J, Frézal J (1979) Congenital glaucoma: Genetic models. Hum Genet 46:305–317
Article CAS PubMed Google Scholar - Demenais F, Elston RC, Bonaiti C, Briard ML, Kaplan EB, Namboodiri KK (1981) Segregation analysis of congenital glaucoma: Approach by two different models. Am J Hum Genet 33:300–306
CAS PubMed PubMed Central Google Scholar - d'Epinay SL, Remé Ch (1977) Ausgewählte Aspekte des kongenitalen Glaucoms. Klin Mbl Augenheilk 170:249–259
Google Scholar - d'Epinay SL (1980) Kongenitales Glaukom. Adv Ophthalmol 41:1–89
Google Scholar - Francois J (1958) L'heredite an ophthalmologie (glaucome congenital). Masson et Cie. Paris, pp 246–255
Google Scholar - Francois J (1972) Heredity of congenital glaucoma. J Pediatr Ophthalmol 9:144–150
Google Scholar - Fraser GR, Friedmann AI (1967) The cause of blindness in childhood. The Johns Hopkins Press, Baltimore, pp 83–87
Google Scholar - Genčík A, Genčíkova A, Gerinec A (1980) Genetic heterogeneity of congenital glaucoma. Clin Genet 17:241–249
PubMed Google Scholar - Genčíkova A, Genčík A, Gerinec A (1977) Genetic heterogeneity of hydrophthalmia. Cs Oftal 33:59–63
Google Scholar - Gerinec A, Genčíkova A (1977) Clinical analysis of families with hydrophthalmia. Cs Oftal 33:147–152
CAS Google Scholar - Gianferrari L, Cresseri A, Maltarello A (1954) Ricerche sulla ereditarieta dell'idroftalmo e della cataratta congenita in paesi delle prealpi orobiche. Acta Genet Med Gemellol (Roma) 3:1–15
Article CAS Google Scholar - van der Helm W (1963) Hydrophthalmia and its treatment. S Karger, Basel New York
Google Scholar - Kluyskens J (1950) Le glaucome congénital. Bull Soc Belge Ophthalmol 94:159–160
Google Scholar - Kwitko ML (1973) Glaucoma in infants and children. Meredith Corporation, New York
Google Scholar - Luntz MH (1979) Congenital, infantile and juvenile glaucoma. Ophthalmology (Rochester) 86:793–802
Article CAS Google Scholar - Merin S, Morin D (1972) Heredity of congenital glaucoma. Br J Ophthalmol 56:414–417
Article CAS PubMed PubMed Central Google Scholar - Seefelder R (1906) Klinische und anatomische Untersuchungen zur Pathologie und Therapie des Hydrophthalmus congenitus. Graefe's Arch Ophthalmol 63:211
Article Google Scholar - Travers JP (1979) The presentation of congenital glaucoma. J Pediatr Ophthalmol Strab 16:241–242
CAS Google Scholar - Waardenburg PJ, Franceschetti A, Klein D (1961) Genetic and ophthalmology. Royal Van Gorcum, Assen, pp 578–601
Google Scholar - Westerlund E (1947) Clinical and genetic studies on the primary glaucoma diseases. Opera ex domo biologie hereditariae humanae. Universitatis Hafniensis, vol 12. Munksgaard, Copenhagen
Google Scholar
Author information
Authors and Affiliations
- Genetic Counseling Service, Department of Pediatrics, University of Bern, CH-3010, Bern, Switzerland
A. Genčík - Department of Clinical Genetics, University Hospital, Bratislava, Czechoslovakia
A. Genčíkova - Department of Anthropology, Comenins University, Bratislava, Czechoslovakia
V. Ferák
Authors
- A. Genčík
You can also search for this author inPubMed Google Scholar - A. Genčíkova
You can also search for this author inPubMed Google Scholar - V. Ferák
You can also search for this author inPubMed Google Scholar
Rights and permissions
About this article
Cite this article
Genčík, A., Genčíkova, A. & Ferák, V. Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset.Hum Genet 61, 193–197 (1982). https://doi.org/10.1007/BF00296440
- Received: 01 March 1982
- Published: 01 October 1982
- Issue Date: October 1982
- DOI: https://doi.org/10.1007/BF00296440