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1 General aspects (1)   1.1 Epidemiology (14)   1.2 Population genetics (2)   1.3 Pathogenesis (1)   1.4 Quality of life (20)   1.5 Glaucomas as cause of blindness (8)   1.6 Prevention and screening (13) 2 Anatomical structures in glaucoma (0)   2.1 Conjunctiva (10)   2.2 Cornea (23)   2.3 Sclera (16)   2.4 Anterior chamber angle (7)   2.5 Meshwork (0)     2.5.1 Trabecular meshwork (15)     2.5.2 Schlemms canal (1)     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 (4)       2.6.2.2 Uveoscleral (1)     2.6.3 Compostion (6)   2.7 Episcleral veins and venous pressure (2)   2.8 Iris (6)   2.9 Ciliary body (0)   2.10 Lens (0)   2.11 Vitreous body (0)   2.12 Choroid, peripapillary choroid, peripapillary atrophy (18)   2.13 Retina and retinal nerve fibre layer (37)   2.14 Optic disc (42)   2.15 Optic nerve (2)   2.16 Chiasma and retrochiasmal central nervous system (13)   2.17 Stem cells (5)   2.20 Other (0) 3 Laboratory methods (0)   3.1 Microscopy (0)   3.2 Electron microscopy (2)   3.3 Immunohistochemistry (2)   3.4 Molecular genetics (0)     3.4.1 Linkage studies (0)     3.4.2 Gene studies (30)   3.5 Molecular biology incl. 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surgery (0)     12.8.1 Without tube implant (17)     12.8.2 With tube implant or other drainage devices (68)     12.8.3 Non-perforating (13)     12.8.4 Using laser (0)     12.8.5 Other (1)     12.8.10 Woundhealing antifibrosis (17)     12.8.11 Complications, endophthalmitis (15)   12.9 Trabeculotomy, goniotomy (25)   12.10 Cyclodestruction (11)   12.11 Cyclodialysis (1)   12.12 Cataract extraction (0)     12.12.1 Intracapsular (0)     12.12.2 Extracapsular (0)     12.12.3 Phacoemulsification (14)   12.14 Combined cataract extraction and glaucoma surgery (0)     12.14.1 Intracapsular (0)     12.14.2 Extracapsular (0)     12.14.3 Phacoemulsification (19)   12.15 Capsulotomy (0)   12.16 Vitrectomy (2)   12.17 Anesthesia (2)   12.20 Other (2) 13 Therapeutic prognosis and outcome (0)   13.1 Prognostic factors (2)   13.2 Outcome (0)     13.2.1 IOP (0)     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 (8) 15 Miscellaneous (37)

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Abstract #82496 Published in IGR 20-4

Aniridia and Axenfeld-Rieger Syndrome: Clinical presentations, molecular genetics and current/emerging therapies

Chrystal PW; Walter MA
Experimental Eye Research 2019; 189: 107815

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Aniridia and Axenfeld-Rieger Syndrome are related, human ocular disorders that are typically inherited in an autosomal dominant manner. Both result from incorrect development of the eye and have, as their most serious consequences, elevated risk to develop the blinding condition glaucoma. This review will focus on describing the clinical presentations of Aniridia and Axenfeld-Rieger Syndrome as well as the molecular genetics and current and emerging therapies used to treat patients.

Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.

Full article

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Classification:

9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.5 Molecular biology incl. SiRNA (Part of: 3 Laboratory methods)

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