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1 General aspects (0)   1.1 Epidemiology (10)   1.2 Population genetics (0)   1.3 Pathogenesis (14)   1.4 Quality of life (14)   1.5 Glaucomas as cause of blindness (4)   1.6 Prevention and screening (8) 2 Anatomical structures in glaucoma (0)   2.1 Conjunctiva (5)   2.2 Cornea (22)   2.3 Sclera (6)   2.4 Anterior chamber angle (6)   2.5 Meshwork (0)     2.5.1 Trabecular meshwork (10)     2.5.2 Schlemms canal (1)     2.5.3 Scleral outlet channels (0)   2.6 Aqueous humor dynamics (0)     2.6.1 Production (0)     2.6.2 Outflow (1)       2.6.2.1 Trabecular meshwork (2)       2.6.2.2 Uveoscleral (0)     2.6.3 Compostion (4)   2.7 Episcleral veins and venous pressure (0)   2.8 Iris (4)   2.9 Ciliary body (1)   2.10 Lens (1)   2.11 Vitreous body (0)   2.12 Choroid, peripapillary choroid, peripapillary atrophy (6)   2.13 Retina and retinal nerve fibre layer (14)   2.14 Optic disc (11)   2.15 Optic nerve (2)   2.16 Chiasma and retrochiasmal central nervous system (4)   2.17 Stem cells (0)   2.20 Other (0) 3 Laboratory methods (0)   3.1 Microscopy (4)   3.2 Electron microscopy (1)   3.3 Immunohistochemistry (0)   3.4 Molecular genetics (0)     3.4.1 Linkage studies (2)     3.4.2 Gene studies (38)   3.5 Molecular biology incl. SiRNA (6)   3.6 Cellular biology (31)   3.7 Biochemistry (6)   3.8 Pharmacology (1)   3.9 Pathophysiology (0)   3.10 Immunobiology (7)   3.11 Pharmacogenetics (0)   3.12 Proteomics (4)   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 (1)     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 (21)   5.2 Primates (2)   5.3 Other (7) 6 Clinical examination methods (0)   6.1 Intraocular pressure measurement; factors affecting IOP (0)     6.1.1 Devices, techniques (10)     6.1.2 Fluctuation, circadian rhythms (7)     6.1.3 Factors affecting IOP (9)   6.2 Tonography, aqueous flow measurement (see also 2.6) (0)   6.3 Biomicroscopy (slitlamp) (0)     6.3.1 Anterior segment (0)     6.3.2 Posterior segment (0)   6.4 Gonioscopy (1)   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 (27)     6.6.3 Special methods (e.g. color, contrast, SWAP etc.) (6)   6.7 Electro-ophthalmodiagnosis (5)   6.8 Photography (0)     6.8.1 Anterior segment (2)     6.8.2 Posterior segment (4)   6.9 Computerized image analysis (0)     6.9.1 Laser scanning (0)       6.9.1.1 Confocal Scanning Laser Ophthalmoscopy (9)       6.9.1.2 Confocal Scanning Laser Polarimetry (3)     6.9.2 Optical coherence tomography (0)       6.9.2.1 Anterior (15)       6.9.2.2 Posterior (40)     6.9.5 Other (3)   6.10 Fluorescein (ICG) angiography (0)     6.10.1 Anterior segment (0)     6.10.2 Posterior segment (0)   6.11 Bloodflow measurements (17)   6.12 Ultrasonography and ultrasound biomicroscopy (3)   6.13 Provocative tests (3)   6.19 Telemedicine (2)   6.20 Progression (19)   6.30 Other (6) 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(0)     9.4.1 Steroid-induced glaucoma (7)     9.4.2 Glaucomas associated with disorders of the cornea, conjunctiva, sclera (2)       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 (1)       9.4.2.5 Other (1)     9.4.3 Glaucomas associated with disorders of the iris and ciliary body (0)       9.4.3.1 Pigmentary glaucoma (1)       9.4.3.5 Other (0)     9.4.4 Glaucomas associated with disorders of the lens (0)       9.4.4.1 Exfoliation syndrome (13)       9.4.4.2 Glaucomas associated with cataracts (0)       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 (5)       9.4.5.5 Other (8)     9.4.6 Glaucomas associated with inflammation, uveitis (6)     9.4.7 Glaucomas associated with ocular trauma (4)     9.4.8 Glaucomas associated with intraocular tumors (6)     9.4.9 Glaucomas associated with elevated episcleral venous pressure (0)       9.4.10 Glaucomas associated with hemorrhage (1)     9.4.11 Glaucomas following intraocular surgery (0)       9.4.11.1 Ciliary block (malignant) glaucoma (1)       9.4.11.2 Glaucomas in aphakia and pseudophakia (8)       9.4.11.3 Epithelial, fibrous, and endothelial proliferation (0)       9.4.11.4 Glaucomas associated with corneal surgery (3)       9.4.11.5 Glaucomas associated with vitreoretinal surgery (0)     9.4.15 Glaucoma in relation to systemic disease (22)     9.4.20 Other (1) 10 Differential diagnosis e.g. anterior and posterior ischemic optic neuropathy (4) 11 Medical treatment (0)   11.1 General management, indication (2)   11.2 Cholinergic drugs (2)   11.3 Adrenergic drugs (0)     11.3.1 Epinephrine (1)     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 (19)     12.8.2 With tube implant or other drainage devices (13)     12.8.3 Non-perforating (4)     12.8.4 Using laser (2)     12.8.5 Other (1)     12.8.10 Woundhealing antifibrosis (6)     12.8.11 Complications, endophthalmitis (7)   12.9 Trabeculotomy, goniotomy (12)   12.10 Cyclodestruction (0)   12.11 Cyclodialysis (0)   12.12 Cataract extraction (0)     12.12.1 Intracapsular (0)     12.12.2 Extracapsular (0)     12.12.3 Phacoemulsification (10)   12.14 Combined cataract extraction and glaucoma surgery (0)     12.14.1 Intracapsular (0)     12.14.2 Extracapsular (0)     12.14.3 Phacoemulsification (4)   12.15 Capsulotomy (0)   12.16 Vitrectomy (0)   12.17 Anesthesia (0)   12.20 Other (5) 13 Therapeutic prognosis and outcome (0)   13.1 Prognostic factors (5)   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 (4) 15 Miscellaneous (14)

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Abstract #51369 Published in IGR 14-3

Bilateral anterior segment dysgenesis in an infant with partial trisomy 16q and partial monosomy 3p

Dikmetas O; Simsek Kiper PO; Mocan MC; Utine EG; Boduroglu K; Irkec M
Journal of AAPOS 2012; 16: 473-475

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Anterior segment dysgenesis comprises a spectrum of malformations arising from faulty neural crest cell migration. We report a newborn boy with partial trisomy 16q and partial monosomy 3p who presented with anterior segment dysgenesis with iris hypoplasia on the right and glaucoma on the left in association with systemic anomalies. The anterior segment dysgenesis features observed in this case have not been previously associated with partial trisomy 16q or partial monosomy 3p. Our findings support the hypothesis that an additional anterior segment dysgenesis gene may reside on chromosome 3p or 16q.

Department of Ophthalmology, Hacettepe University School of Medicine, Ankara, Turkey.

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)
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)

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