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The inheritance of juvenile onset primary open angle glaucoma. 2017

V Gupta, and B I Somarajan, and S Gupta, and A K Chaurasia, and S Kumar, and P Dutta, and V Gupta, and A Sharma, and B O Tayo, and K Nischal
Dr Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.

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.

UI MeSH Term Description Entries
D007194 India A country in southern Asia, bordering the Arabian Sea and the Bay of Bengal, between Burma and Pakistan. The capitol is New Delhi. Republic of India
D007429 Intraocular Pressure The pressure of the fluids in the eye. Ocular Tension,Intraocular Pressures,Ocular Tensions,Pressure, Intraocular,Pressures, Intraocular,Tension, Ocular,Tensions, Ocular
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D009898 Optic Disk The portion of the optic nerve seen in the fundus with the ophthalmoscope. It is formed by the meeting of all the retinal ganglion cell axons as they enter the optic nerve. Blind Spot,Optic Disc,Optic Nerve Head,Optic Papilla,Blind Spots,Disc, Optic,Disk, Optic,Head, Optic Nerve,Nerve Head, Optic,Optic Discs,Optic Disks,Optic Nerve Heads,Optic Papillas,Papilla, Optic,Papillas, Optic,Spot, Blind
D003598 Cytoskeletal Proteins Major constituent of the cytoskeleton found in the cytoplasm of eukaryotic cells. They form a flexible framework for the cell, provide attachment points for organelles and formed bodies, and make communication between parts of the cell possible. Proteins, Cytoskeletal
D005136 Eye Proteins PROTEINS derived from TISSUES of the EYE. Proteins, Eye
D005902 Glaucoma, Open-Angle Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris. Glaucoma Simplex,Glaucoma, Pigmentary,Glaucoma, Simple,Open-Angle Glaucoma,Chronic Primary Open Angle Glaucoma,Glaucoma, Compensated,Glaucoma, Compensative,Glaucoma, Open Angle,Glaucoma, Primary Open Angle,Glaucoma, Secondary Open Angle,Primary Open Angle Glaucoma,Secondary Open Angle Glaucoma,Compensated Glaucoma,Compensative Glaucoma,Open Angle Glaucoma,Open Angle Glaucomas,Open-Angle Glaucomas,Pigmentary Glaucoma,Simple Glaucoma,Simplex, Glaucoma,Simplices, Glaucoma
D006023 Glycoproteins Conjugated protein-carbohydrate compounds including MUCINS; mucoid, and AMYLOID glycoproteins. C-Glycosylated Proteins,Glycosylated Protein,Glycosylated Proteins,N-Glycosylated Proteins,O-Glycosylated Proteins,Glycoprotein,Neoglycoproteins,Protein, Glycosylated,Proteins, C-Glycosylated,Proteins, Glycosylated,Proteins, N-Glycosylated,Proteins, O-Glycosylated
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths

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