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1 General aspects (0)   1.1 Epidemiology (9)   1.2 Population genetics (2)   1.3 Pathogenesis (3)   1.4 Quality of life (5)   1.5 Glaucomas as cause of blindness (6)   1.6 Prevention and screening (7) 2 Anatomical structures in glaucoma (0)   2.1 Conjunctiva (8)   2.2 Cornea (15)   2.3 Sclera (4)   2.4 Anterior chamber angle (8)   2.5 Meshwork (0)     2.5.1 Trabecular meshwork (7)     2.5.2 Schlemms canal (2)     2.5.3 Scleral outlet channels (0)   2.6 Aqueous humor dynamics (0)     2.6.1 Production (0)     2.6.2 Outflow (0)       2.6.2.1 Trabecular meshwork (1)       2.6.2.2 Uveoscleral (0)     2.6.3 Compostion (3)   2.7 Episcleral veins and venous pressure (1)   2.8 Iris (2)   2.9 Ciliary body (1)   2.10 Lens (0)   2.11 Vitreous body (0)   2.12 Choroid, peripapillary choroid, peripapillary atrophy (5)   2.13 Retina and retinal nerve fibre layer (18)   2.14 Optic disc (19)   2.15 Optic nerve (2)   2.16 Chiasma and retrochiasmal central nervous system (3)   2.17 Stem cells (2)   2.20 Other (0) 3 Laboratory methods (0)   3.1 Microscopy (2)   3.2 Electron microscopy (0)   3.3 Immunohistochemistry (1)   3.4 Molecular genetics (0)     3.4.1 Linkage studies (5)     3.4.2 Gene studies (21)   3.5 Molecular biology incl. SiRNA (13)   3.6 Cellular biology (28)   3.7 Biochemistry (10)   3.8 Pharmacology (11)   3.9 Pathophysiology (12)   3.10 Immunobiology (5)   3.11 Pharmacogenetics (0)   3.12 Proteomics (2)   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 (0) 4 Tissue culture of ocular cells (0) 5 Experimental glaucoma; animal models (0)   5.1 Rodent (18)   5.2 Primates (3)   5.3 Other (9) 6 Clinical examination methods (0)   6.1 Intraocular pressure measurement; factors affecting IOP (1)     6.1.1 Devices, techniques (7)     6.1.2 Fluctuation, circadian rhythms (8)     6.1.3 Factors affecting IOP (10)   6.2 Tonography, aqueous flow measurement (see also 2.6) (0)   6.3 Biomicroscopy (slitlamp) (0)     6.3.1 Anterior segment (1)     6.3.2 Posterior segment (0)   6.4 Gonioscopy (3)   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 (10)     6.6.3 Special methods (e.g. color, contrast, SWAP etc.) (3)   6.7 Electro-ophthalmodiagnosis (7)   6.8 Photography (0)     6.8.1 Anterior segment (0)     6.8.2 Posterior segment (3)   6.9 Computerized image analysis (0)     6.9.1 Laser scanning (0)       6.9.1.1 Confocal Scanning Laser Ophthalmoscopy (7)       6.9.1.2 Confocal Scanning Laser Polarimetry (7)     6.9.2 Optical coherence tomography (0)       6.9.2.1 Anterior (12)       6.9.2.2 Posterior (32)     6.9.5 Other (1)   6.10 Fluorescein (ICG) angiography (0)     6.10.1 Anterior segment (0)     6.10.2 Posterior segment (0)   6.11 Bloodflow measurements (11)   6.12 Ultrasonography and ultrasound biomicroscopy (5)   6.13 Provocative tests (3)   6.19 Telemedicine (2)   6.20 Progression (13)   6.30 Other (4) 8 Refractive errors in relation to glaucoma (0)   8.1 Myopia (7)   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 (13)     9.1.2 Juvenile glaucoma (8)     9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (2)     9.1.4 Other (0)   9.2 Primary open angle glaucomas (0)     9.2.1 Ocular hypertension (0)     9.2.2 Other risk factors for glaucoma (9)     9.2.3 Open angle glaucoma with elevated IOP (3)     9.2.4 Normal pressure glaucoma (12)   9.3 Primary angle closure glaucomas (0)     9.3.1 Acute primary angle closure glaucoma (pupillary block) (7)     9.3.2 Chronic primary angle closure glaucoma (pupillary block) (1)     9.3.3 Plateau iris syndrome (1)     9.3.4 Primary angle closure suspect (2)     9.3.5 Primary angle closure (10)     9.3.10 Other (0)   9.4 Glaucomas associated with other ocular and systemic disorders (0)     9.4.1 Steroid-induced glaucoma (3)     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 (4)     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 (0)     9.4.4 Glaucomas associated with disorders of the lens (0)       9.4.4.1 Exfoliation syndrome (9)       9.4.4.2 Glaucomas associated with cataracts (2)       9.4.4.3 Glaucomas associated with lens dislocation (2)       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 (12)       9.4.5.5 Other (1)     9.4.6 Glaucomas associated with inflammation, uveitis (8)     9.4.7 Glaucomas associated with ocular trauma (1)     9.4.8 Glaucomas associated with intraocular tumors (5)     9.4.9 Glaucomas associated with elevated episcleral venous pressure (0)       9.4.10 Glaucomas associated with hemorrhage (3)     9.4.11 Glaucomas following intraocular surgery (0)       9.4.11.1 Ciliary block (malignant) glaucoma (6)       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 (7)     9.4.15 Glaucoma in relation to systemic disease (18)     9.4.20 Other (0) 10 Differential diagnosis e.g. anterior and posterior ischemic optic neuropathy (4) 11 Medical treatment (0)   11.1 General management, indication (4)   11.2 Cholinergic drugs (0)   11.3 Adrenergic drugs (0)     11.3.1 Epinephrine (0)     11.3.2 Thymoxamine, dapiprazole (0)     11.3.3 Apraclonidine, brimonidine (1)     11.3.4 Betablocker (6)     11.3.5 Other (0)   11.4 Prostaglandins 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    12.8.1 Without tube implant (5)     12.8.2 With tube implant or other drainage devices (13)     12.8.3 Non-perforating (5)     12.8.4 Using laser (0)     12.8.5 Other (0)     12.8.10 Woundhealing antifibrosis (12)     12.8.11 Complications, endophthalmitis (8)   12.9 Trabeculotomy, goniotomy (1)   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 (3)   12.14 Combined cataract extraction and glaucoma surgery (0)     12.14.1 Intracapsular (0)     12.14.2 Extracapsular (0)     12.14.3 Phacoemulsification (1)   12.15 Capsulotomy (0)   12.16 Vitrectomy (0)   12.17 Anesthesia (1)   12.20 Other (1) 13 Therapeutic prognosis and outcome (0)   13.1 Prognostic factors (2)   13.2 Outcome (0)     13.2.1 IOP (2)     13.2.2 Visual field (0)       13.2.2.1 Progression (0)       13.2.2.2 Improvement (0)     13.2.3 Other (1) 14 Costing studies; pharmacoeconomics (7) 15 Miscellaneous (13)

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Abstract #51916 Published in IGR 14-4

The genetics of pigment dispersion syndrome and pigmentary glaucoma

Lascaratos G; Shah A; Garway-Heath DF
Survey of Ophthalmology 2013; 58: 164-175

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We review the inheritance patterns and recent genetic advances in the study of pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG). Both conditions may result from combinations of mutations in more than one gene or from common variants in many genes, each contributing small effects. We discuss the currently known genetic loci that may be related with PDS/PG in humans, the role of animal models in expanding our understanding of the genetic basis of PDS, the genetic factors underlying the risk for conversion from PDS to PG and the relationship between genetic and environmental-as well as anatomical-risk factors.

NIHR Biomedical Research Centre for Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK. Electronic address: glascaratos@gmail.com.

Full article

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Classification:

9.4.3.1 Pigmentary glaucoma (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders > 9.4.3 Glaucomas associated with disorders of the iris and ciliary body)
1.2 Population genetics (Part of: 1 General aspects)

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