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.
authors: Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
authors: V
authors: V
authors: Gupta
authors: Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
authors: B I
authors: BI
authors: Somarajan
authors: Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
authors: S
authors: S
authors: Gupta
authors: Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
authors: A K
authors: AK
authors: Chaurasia
authors: Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
authors: S
authors: S
authors: Kumar
authors: Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
authors: P
authors: P
authors: Dutta
authors: Department of Anthropology, University of Delhi, New Delhi, India.
authors: V
authors: V
authors: Gupta
authors: Department of Anatomy, All India Institute of Medical Sciences, New Delhi, India.
authors: A
authors: A
authors: Sharma
authors: Department of Public Health Sciences, Stritch School of Medicine Loyola University Chicago, Maywood, IL, USA.
authors: B O
authors: BO
authors: Tayo
authors: Department of Pediatric Ophthalmology, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
authors: K
authors: K
authors: Nischal
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D065633:Cytochrome P-450 CYP1B1 / Q000235:genetics*; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005902:Glaucoma, Open-Angle / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007194:India; D007429:Intraocular Pressure / Q000235:genetics; D009154:Mutation; D009898:Optic Disk / Q000503:physiopathology; D055815:Young Adult; D000099179:Myocilin
chemical_list: D065633:Cytochrome P-450 CYP1B1; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin; C585496:CYP1B1 protein, human
keywords: early onset glaucoma; glaucoma; inheritance; juvenile glaucoma