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1 General aspects (0)   1.1 Epidemiology (9)   1.2 Population genetics (1)   1.3 Pathogenesis (0)   1.4 Quality of life (11)   1.5 Glaucomas as cause of blindness (11)   1.6 Prevention and screening (13) 2 Anatomical structures in glaucoma (0)   2.1 Conjunctiva (2)   2.2 Cornea (14)   2.3 Sclera (8)   2.4 Anterior chamber angle (3)   2.5 Meshwork (0)     2.5.1 Trabecular meshwork (6)     2.5.2 Schlemms canal (3)     2.5.3 Scleral outlet channels (1)   2.6 Aqueous humor dynamics (0)     2.6.1 Production (0)     2.6.2 Outflow (1)       2.6.2.1 Trabecular meshwork (3)       2.6.2.2 Uveoscleral (0)     2.6.3 Compostion (1)   2.7 Episcleral veins and venous pressure (0)   2.8 Iris (6)   2.9 Ciliary body (0)   2.10 Lens (0)   2.11 Vitreous body (1)   2.12 Choroid, peripapillary choroid, peripapillary atrophy (2)   2.13 Retina and retinal nerve fibre layer (21)   2.14 Optic disc (20)   2.15 Optic nerve (4)   2.16 Chiasma and retrochiasmal central nervous system (4)   2.17 Stem cells (3)   2.20 Other (0) 3 Laboratory methods (0)   3.1 Microscopy (0)   3.2 Electron microscopy (1)   3.3 Immunohistochemistry (0)   3.4 Molecular genetics (0)     3.4.1 Linkage studies (1)     3.4.2 Gene studies (14)   3.5 Molecular biology incl. SiRNA (10)   3.6 Cellular biology (23)   3.7 Biochemistry (6)   3.8 Pharmacology (12)   3.9 Pathophysiology (9)   3.10 Immunobiology (6)   3.11 Pharmacogenetics (0)   3.12 Proteomics (0)   3.13 In vivo imaging (0)     3.13.1 Laser Scanning (0)       3.13.1.1 Confocal Scanning Laser Ophthalmoscopy (0)       3.13.1.2 Confocal Scanning Laser Polarimetry (0)     3.13.2 Optical Coherence Tomography (0)       3.13.2.1 Anterior Segment (0)       3.13.2.2 Posterior Segment (0)     3.13.3 RGC Imaging (1)     3.13.4 Other (0)   3.20 Other (1) 4 Tissue culture of ocular cells (0) 5 Experimental glaucoma; animal models (0)   5.1 Rodent (12)   5.2 Primates (2)   5.3 Other (8) 6 Clinical examination methods (0)   6.1 Intraocular pressure measurement; factors affecting IOP (1)     6.1.1 Devices, techniques (13)     6.1.2 Fluctuation, circadian rhythms (8)     6.1.3 Factors affecting IOP (15)   6.2 Tonography, aqueous flow measurement (see also 2.6) (1)   6.3 Biomicroscopy (slitlamp) (0)     6.3.1 Anterior segment (1)     6.3.2 Posterior segment (0)   6.4 Gonioscopy (0)   6.5 Ophthalmoscopy (0)   6.6 Visual field examination and other visual function tests (0)     6.6.1 Conventional manual (0)     6.6.2 Automated (20)     6.6.3 Special methods (e.g. color, contrast, SWAP etc.) (14)   6.7 Electro-ophthalmodiagnosis (7)   6.8 Photography (0)     6.8.1 Anterior segment (1)     6.8.2 Posterior segment (5)   6.9 Computerized image analysis (0)     6.9.1 Laser scanning (0)       6.9.1.1 Confocal Scanning Laser Ophthalmoscopy (8)       6.9.1.2 Confocal Scanning Laser Polarimetry (2)     6.9.2 Optical coherence tomography (0)       6.9.2.1 Anterior (10)       6.9.2.2 Posterior (34)     6.9.5 Other (6)   6.10 Fluorescein (ICG) angiography (0)     6.10.1 Anterior segment (0)     6.10.2 Posterior segment (0)   6.11 Bloodflow measurements (14)   6.12 Ultrasonography and ultrasound biomicroscopy (4)   6.13 Provocative tests (5)   6.19 Telemedicine (1)   6.20 Progression (12)   6.30 Other (9) 8 Refractive errors in relation to glaucoma (0)   8.1 Myopia (9)   8.2 Hypermetropia (0)   8.3 Contact lenses (0)   8.4 Refractive surgical procedures (0)   8.5 Other (0) 9 Clinical forms of glaucomas (0)   9.1 Developmental glaucomas (0)     9.1.1 Congenital glaucoma, Buphthalmos (8)     9.1.2 Juvenile glaucoma (10)     9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (2)     9.1.4 Other (1)   9.2 Primary open angle glaucomas (0)     9.2.1 Ocular hypertension (3)     9.2.2 Other risk factors for glaucoma (8)     9.2.3 Open angle glaucoma with elevated IOP (0)     9.2.4 Normal pressure glaucoma (12)   9.3 Primary angle closure glaucomas (0)     9.3.1 Acute primary angle closure glaucoma (pupillary block) (9)     9.3.2 Chronic primary angle closure glaucoma (pupillary block) (4)     9.3.3 Plateau iris syndrome (0)     9.3.4 Primary angle closure suspect (0)     9.3.5 Primary angle closure (4)     9.3.10 Other (0)   9.4 Glaucomas associated with other ocular and systemic disorders (0)     9.4.1 Steroid-induced glaucoma (4)     9.4.2 Glaucomas associated with disorders of the cornea, conjunctiva, sclera (0)       9.4.2.1 Iridocorneal endothelial syndrome (ICE, incl. irisatrophy) (1)       9.4.2.2 Posterior polymorphous dystrophy (0)       9.4.2.3 Fuchs' endothelial dystrophy (0)       9.4.2.5 Other (2)     9.4.3 Glaucomas associated with disorders of the iris and ciliary body (0)       9.4.3.1 Pigmentary glaucoma (2)       9.4.3.5 Other (3)     9.4.4 Glaucomas associated with disorders of the lens (0)       9.4.4.1 Exfoliation syndrome (14)       9.4.4.2 Glaucomas associated with cataracts (5)       9.4.4.3 Glaucomas associated with lens dislocation (3)       9.4.4.5 Other (2)     9.4.5 Glaucomas associated with disorders of the retina, choroid and vitreous (0)       9.4.5.1 Neovascular glaucoma (10)       9.4.5.5 Other (7)     9.4.6 Glaucomas associated with inflammation, uveitis (12)     9.4.7 Glaucomas associated with ocular trauma (2)     9.4.8 Glaucomas associated with intraocular tumors (5)     9.4.9 Glaucomas associated with elevated episcleral venous pressure (1)       9.4.10 Glaucomas associated with hemorrhage (4)     9.4.11 Glaucomas following intraocular surgery (2)       9.4.11.1 Ciliary block (malignant) glaucoma (1)       9.4.11.2 Glaucomas in aphakia and pseudophakia (6)       9.4.11.3 Epithelial, fibrous, and endothelial proliferation (0)       9.4.11.4 Glaucomas associated with corneal surgery (8)       9.4.11.5 Glaucomas associated with vitreoretinal surgery (2)     9.4.15 Glaucoma in relation to systemic disease (21)     9.4.20 Other (2) 10 Differential diagnosis e.g. anterior and posterior ischemic optic neuropathy (1) 11 Medical treatment (0)   11.1 General management, indication (9)   11.2 Cholinergic drugs (1)   11.3 Adrenergic drugs (0)     11.3.1 Epinephrine (0)     11.3.2 Thymoxamine, dapiprazole (0)     11.3.3 Apraclonidine, brimonidine (0)     11.3.4 Betablocker (3)     11.3.5 Other (0)   11.4 Prostaglandins 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    12.8.1 Without tube implant (22)     12.8.2 With tube implant or other drainage devices (25)     12.8.3 Non-perforating (4)     12.8.4 Using laser (0)     12.8.5 Other (1)     12.8.10 Woundhealing antifibrosis (15)     12.8.11 Complications, endophthalmitis (7)   12.9 Trabeculotomy, goniotomy (10)   12.10 Cyclodestruction (5)   12.11 Cyclodialysis (0)   12.12 Cataract extraction (0)     12.12.1 Intracapsular (0)     12.12.2 Extracapsular (0)     12.12.3 Phacoemulsification (7)   12.14 Combined cataract extraction and glaucoma surgery (0)     12.14.1 Intracapsular (0)     12.14.2 Extracapsular (0)     12.14.3 Phacoemulsification (6)   12.15 Capsulotomy (0)   12.16 Vitrectomy (5)   12.17 Anesthesia (2)   12.20 Other (2) 13 Therapeutic prognosis and outcome (0)   13.1 Prognostic factors (1)   13.2 Outcome (0)     13.2.1 IOP (1)     13.2.2 Visual field (0)       13.2.2.1 Progression (0)       13.2.2.2 Improvement (0)     13.2.3 Other (0) 14 Costing studies; pharmacoeconomics (5) 15 Miscellaneous (27)

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Abstract #66325 Published in IGR 17-3

An Updated Review on the Genetics of Primary Open Angle Glaucoma

Abu-Amero K; Kondkar AA; Chalam KV
International journal of molecular sciences 2015; 16: 28886-28911

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Epidemiological studies suggest that by 2020 the prevalence of primary open angle glaucoma (POAG) is estimated to increase to 76.0 million, and to 111.8 million by 2040 globally due to the population aging. The prevalence of POAG is the highest among those of African descent, followed by Asians, and the lowest in Europeans. POAG is a genetically complex trait with a substantial fraction exhibiting a significant heritability. Less than 10% of POAG cases in the general population are caused by specific gene mutations and the remaining cases are polygenic. Quantitative traits related to POAG pathogenesis such as intra-ocular pressure (IOP), vertical cup/disc ratio (VCDR), optic disc area, and central corneal thickness (CCT) are highly heritable, and likely to be influenced at least in part by genes and show substantial variation in human populations. Recent genome-wide association studies (GWAS) have identified several single nucleotide polymorphisms (SNPs) at different loci including CAV1/CAV2, TMCO1, CDKN2B-AS1, CDC7-TGFBR3, SIX1/SIX6, GAS7 and ATOH7 to be associated with POAG and its related quantitative traits (endophenotypes). The chapter provides a brief overview on the different GWAS and SNP association studies and their correlation with various clinical parameters important for POAG in the population worldwide, including the Middle East.

Full article

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Classification:

1.2 Population genetics (Part of: 1 General aspects)
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)

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