advertisement

---

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) 8 Refractive errors in relation to glaucoma (1)   8.1 Myopia (8)   8.2 Hypermetropia (0)   8.3 Contact lenses (0)   8.4 Refractive surgical procedures (0)   8.5 Other (1) 9 Clinical forms of glaucomas (0)   9.1 Developmental glaucomas (0)     9.1.1 Congenital glaucoma, Buphthalmos (7)     9.1.2 Juvenile glaucoma (12)     9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (5)     9.1.4 Other (1)   9.2 Primary open angle glaucomas (0)     9.2.1 Ocular hypertension (7)     9.2.2 Other risk factors for glaucoma (5)     9.2.3 Open angle glaucoma with elevated IOP (7)     9.2.4 Normal pressure glaucoma (16)   9.3 Primary angle closure glaucomas (0)     9.3.1 Acute primary angle closure glaucoma (pupillary block) (13)     9.3.2 Chronic primary angle closure glaucoma (pupillary block) (6)     9.3.3 Plateau iris syndrome (1)     9.3.4 Primary angle closure suspect (2)     9.3.5 Primary angle closure (7)     9.3.10 Other (1)   9.4 Glaucomas associated with other ocular and systemic disorders (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 (17)   11.5 Carbonic anhydrase inhibitors (0)     11.5.1 Systemic (1)     11.5.2 Topical (2)   11.6 Osmotic treatment (0)   11.7 Treatment of bloodflow (2)   11.8 Neuroprotection (29)   11.9 Gene therapy (1)   11.13 Combination therapy (0)     11.13.1 Betablocker and pilocarpine (0)     11.13.2 Betablocker and carbon anhydrase inhibitor (1)     11.13.3 Betablocker and brimonidine (1)     11.13.4 Betablocker and prostaglandin (2)     11.13.5 Other (1)   11.14 Investigational drugs; pharmacological experiments (15)   11.15 Other drugs in relation to glaucoma (14)   11.16 Vehicles, delivery systems, pharmacokinetics, formulation (16)   11.17 Cooperation with medical therapy e.g. persistency, compliance, adherence (7)   11.20 Other (0) 12 Surgical treatment (0)   12.1 General management, indication (3)   12.2 Laser iridotomy (7)   12.3 Laser iridoplasty (1)   12.4 Laser trabeculoplasty and other laser treatment of the angle (4)   12.7 Surgical iridectomy (3)   12.8 Filtering surgery (0)     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)

---

Abstract #76605 Published in IGR 19-3

Genomic Locus Modulating IOP in the BXD RI Mouse Strains

King R; Li Y; Wang J; Struebing FL; Geisert EE
G3 (Bethesda, Md.) 2018; 8: 1571-1578

---

Intraocular pressure (IOP) is the primary risk factor for developing glaucoma, yet little is known about the contribution of genomic background to IOP regulation. The present study leverages an array of systems genetics tools to study genomic factors modulating normal IOP in the mouse. The BXD recombinant inbred (RI) strain set was used to identify genomic loci modulating IOP. We measured the IOP in a total of 506 eyes from 38 different strains. Strain averages were subjected to conventional quantitative trait analysis by means of composite interval mapping. Candidate genes were defined, and immunohistochemistry and quantitative PCR (qPCR) were used for validation. Of the 38 BXD strains examined the mean IOP ranged from a low of 13.2mmHg to a high of 17.1mmHg. The means for each strain were used to calculate a genome wide interval map. One significant quantitative trait locus (QTL) was found on Chr.8 (96 to 103 Mb). Within this 7 Mb region only 4 annotated genes were found: , , and Only two genes ( and ) were candidates for modulating IOP based on the presence of non-synonymous SNPs. Further examination using SIFT (Sorting Intolerant From Tolerant) analysis revealed that the SNPs in (Cadherin 8) were predicted to not change protein function; while the SNPs in (Cadherin 11) would not be tolerated, affecting protein function. Furthermore, immunohistochemistry demonstrated that CDH11 is expressed in the trabecular meshwork of the mouse. We have examined the genomic regulation of IOP in the BXD RI strain set and found one significant QTL on Chr. 8. Within this QTL, there is one good candidate gene, .

Department of Ophthalmology, Emory University, Atlanta, Georgia 30322.

Full article

---

Classification:

3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
5.1 Rodent (Part of: 5 Experimental glaucoma; animal models)

---

• ← Previous
• Next →

---