The inheritance of juvenile onset primary open angle glaucoma Journal Article

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Authors: Gupta, V; Somarajan, B. I.; Gupta, S; Chaurasia, A. K.; Kumar, S; Dutta, P.; Sharma, A; Tayo, B. O.; Nischal, K.
Article Title: The inheritance of juvenile onset primary open angle glaucoma
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.
Journal Title: Clinical genetics
ISSN: 1399-0004; 0009-9163
Publisher: Wiley Periodicals, Inc  
Journal Place: Denmark
Date Published: 2016
Language: eng
DOI/URL:

10.1111/cge.12906
Notes: LR: 20170216; CI: (c) 2016; JID: 0253664; OTO: NOTNLM; 2016/09/13 [received]; 2016/10/20 [revised]; 2016/10/21 [accepted]; aheadofprint