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The inheritance of juvenile onset primary open angle glaucoma.
- Source :
- Clinical Genetics; Aug2017, Vol. 92 Issue 2, p134-142, 10p, 2 Diagrams, 3 Charts
- Publication Year :
- 2017
-
Abstract
- Juvenile onset open angle glaucoma ( JOAG) affects patients before 40 years of age, who present with high intraocular pressure and deep steep cupping of the optic nerve head. While it was considered to be inherited in an autosomal dominant fashion, recent studies have shown an autosomal recessive pattern as well as sporadic occurrence of the disease in several families. In this review, we analyze the genetic basis of the disease along with common mutations and their association with JOAG. We also analyzed the inheritance patterns in a large group of unrelated JOAG patients ( n = 336) from Northern India wherein the prevalence of familial occurrence was assessed and segregation analysis performed, to determine the mode of inheritance. [ABSTRACT FROM AUTHOR]
- Subjects :
- GLAUCOMA
HEREDITY
OPTIC nerve abnormalities
GENETIC mutation
GENETICS
Subjects
Details
- Language :
- English
- ISSN :
- 00099163
- Volume :
- 92
- Issue :
- 2
- Database :
- Complementary Index
- Journal :
- Clinical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 124129771
- Full Text :
- https://doi.org/10.1111/cge.12906