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1 General aspects (0)   1.1 Epidemiology (7)   1.2 Population genetics (1)   1.3 Pathogenesis (3)   1.4 Quality of life (14)   1.5 Glaucomas as cause of blindness (6)   1.6 Prevention and screening (7) 2 Anatomical structures in glaucoma (0)   2.1 Conjunctiva (14)   2.2 Cornea (20)   2.3 Sclera (10)   2.4 Anterior chamber angle (3)   2.5 Meshwork (0)     2.5.1 Trabecular meshwork (11)     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 (0)       2.6.2.1 Trabecular meshwork (4)       2.6.2.2 Uveoscleral (0)     2.6.3 Compostion (3)   2.7 Episcleral veins and venous pressure (0)   2.8 Iris (5)   2.9 Ciliary body (0)   2.10 Lens (1)   2.11 Vitreous body (0)   2.12 Choroid, peripapillary choroid, peripapillary atrophy (24)   2.13 Retina and retinal nerve fibre layer (33)   2.14 Optic disc (27)   2.15 Optic nerve (5)   2.16 Chiasma and retrochiasmal central nervous system (6)   2.17 Stem cells (7)   2.20 Other (0) 3 Laboratory methods (0)   3.1 Microscopy (1)   3.2 Electron microscopy (0)   3.3 Immunohistochemistry (1)   3.4 Molecular genetics (0)     3.4.1 Linkage studies (1)     3.4.2 Gene studies (16)   3.5 Molecular biology incl. SiRNA (16)   3.6 Cellular biology (39)   3.7 Biochemistry (10)   3.8 Pharmacology (13)   3.9 Pathophysiology (10)   3.10 Immunobiology (4)   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 (2)     3.13.3 RGC Imaging (0)     3.13.4 Other (1)   3.20 Other (0) 4 Tissue culture of ocular cells (0) 5 Experimental glaucoma; animal models (0)   5.1 Rodent (31)   5.2 Primates (1)   5.3 Other (4) 6 Clinical examination methods (0)   6.1 Intraocular pressure measurement; factors affecting IOP (0)     6.1.1 Devices, techniques (9)     6.1.2 Fluctuation, circadian rhythms (5)     6.1.3 Factors affecting IOP (20)   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 (3)   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 (27)     6.6.3 Special methods (e.g. color, contrast, SWAP etc.) (14)   6.7 Electro-ophthalmodiagnosis (2)   6.8 Photography (0)     6.8.1 Anterior segment (1)     6.8.2 Posterior segment (2)   6.9 Computerized image analysis (0)     6.9.1 Laser scanning (0)       6.9.1.1 Confocal Scanning Laser Ophthalmoscopy (3)       6.9.1.2 Confocal Scanning Laser Polarimetry (2)     6.9.2 Optical coherence tomography (0)       6.9.2.1 Anterior (9)       6.9.2.2 Posterior (78)     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 (37)   6.12 Ultrasonography and ultrasound biomicroscopy (6)   6.13 Provocative tests (2)   6.19 Telemedicine (2)   6.20 Progression (22)   6.30 Other (7) 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(0)     9.4.1 Steroid-induced glaucoma (5)     9.4.2 Glaucomas associated with disorders of the cornea, conjunctiva, sclera (0)       9.4.2.1 Iridocorneal endothelial syndrome (ICE, incl. irisatrophy) (0)       9.4.2.2 Posterior polymorphous dystrophy (0)       9.4.2.3 Fuchs' endothelial dystrophy (1)       9.4.2.5 Other (0)     9.4.3 Glaucomas associated with disorders of the iris and ciliary body (0)       9.4.3.1 Pigmentary glaucoma (4)       9.4.3.5 Other (2)     9.4.4 Glaucomas associated with disorders of the lens (0)       9.4.4.1 Exfoliation syndrome (12)       9.4.4.2 Glaucomas associated with cataracts (0)       9.4.4.3 Glaucomas associated with lens dislocation (0)       9.4.4.5 Other (3)     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 (4)     9.4.6 Glaucomas associated with inflammation, uveitis (8)     9.4.7 Glaucomas associated with ocular trauma (0)     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 (5)     9.4.11 Glaucomas following intraocular surgery (2)       9.4.11.1 Ciliary block (malignant) glaucoma (3)       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 (8)       9.4.11.5 Glaucomas associated with vitreoretinal surgery (8)     9.4.15 Glaucoma in relation to systemic disease (47)     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 (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 (3)     11.3.4 Betablocker (8)     11.3.5 Other (0)   11.4 Prostaglandins 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    12.8.1 Without tube implant (20)     12.8.2 With tube implant or other drainage devices (59)     12.8.3 Non-perforating (15)     12.8.4 Using laser (0)     12.8.5 Other (2)     12.8.10 Woundhealing antifibrosis (16)     12.8.11 Complications, endophthalmitis (22)   12.9 Trabeculotomy, goniotomy (13)   12.10 Cyclodestruction (13)   12.11 Cyclodialysis (0)   12.12 Cataract extraction (0)     12.12.1 Intracapsular (0)     12.12.2 Extracapsular (0)     12.12.3 Phacoemulsification (12)   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 (0)   12.17 Anesthesia (0)   12.20 Other (6) 13 Therapeutic prognosis and outcome (0)   13.1 Prognostic factors (0)   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 (1)     13.2.3 Other (0) 14 Costing studies; pharmacoeconomics (6) 15 Miscellaneous (41)

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Abstract #77247 Published in IGR 19-3

Nanophthalmos: A Review of the Clinical Spectrum and Genetics

Carricondo PC; Andrade T; Prasov L; Prasov L; Ayres BM; Moroi SE
Journal of Ophthalmology 2018; 2018: 2735465

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Nanophthalmos is a clinical spectrum of disorders with a phenotypically small but structurally normal eye. These disorders present significant clinical challenges to ophthalmologists due to a high rate of secondary angle-closure glaucoma, spontaneous choroidal effusions, and perioperative complications with cataract and retinal surgeries. Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance. To date, five genes (i.e., , , , , and ) and two loci have been implicated in familial forms of nanophthalmos. Here, we review the definition of nanophthalmos, the clinical and pathogenic features of the condition, and the genetics of this disorder.

Department of Ophthalmology, Hospital das Clínicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

Full article

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Classification:

9.1.4 Other (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)

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