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Abstract #70421 Published in IGR 18-2
The inheritance of Juvenile onset Primary Open angle glaucoma
Somarajan BI; Gupta S; Chaurasia AK; Kumar S; Dutta P; Gupta V; Sharma A; Tayo BO; Nischal KClinical Genetics 2017; 92: 134-142
Juvenile onset open angle glaucoma affects patients before 40years 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.
Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, INDIA. gupta_v20032000@yahoo.com.
Full articleClassification:
9.1.2 Juvenile glaucoma (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
