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1 General aspects (0)   1.1 Epidemiology (20)   1.2 Population genetics (2)   1.3 Pathogenesis (6)   1.4 Quality of life (12)   1.5 Glaucomas as cause of blindness (5)   1.6 Prevention and screening (9) 2 Anatomical structures in glaucoma (0)   2.1 Conjunctiva (16)   2.2 Cornea (12)   2.3 Sclera (9)   2.4 Anterior chamber angle (10)   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 (0)       2.6.2.1 Trabecular meshwork (3)       2.6.2.2 Uveoscleral (3)     2.6.3 Compostion (4)   2.7 Episcleral veins and venous pressure (0)   2.8 Iris (7)   2.9 Ciliary body (0)   2.10 Lens (0)   2.11 Vitreous body (0)   2.12 Choroid, peripapillary choroid, peripapillary atrophy (4)   2.13 Retina and retinal nerve fibre layer (23)   2.14 Optic disc (23)   2.15 Optic nerve (12)   2.16 Chiasma and retrochiasmal central nervous system (12)   2.17 Stem cells (5)   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 (6)     3.4.2 Gene studies (28)   3.5 Molecular biology incl. SiRNA (17)   3.6 Cellular biology (47)   3.7 Biochemistry (11)   3.8 Pharmacology (8)   3.9 Pathophysiology (21)   3.10 Immunobiology (0)   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 (2)     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 (23)   5.2 Primates (12)   5.3 Other (11) 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 (10)     6.1.3 Factors affecting IOP (7)   6.2 Tonography, aqueous flow measurement (see also 2.6) (1)   6.3 Biomicroscopy (slitlamp) (0)     6.3.1 Anterior segment (0)     6.3.2 Posterior segment (1)   6.4 Gonioscopy (1)   6.5 Ophthalmoscopy (1)   6.6 Visual field examination and other visual function tests (0)     6.6.1 Conventional manual (5)     6.6.2 Automated (30)     6.6.3 Special methods (e.g. color, contrast, SWAP etc.) (7)   6.7 Electro-ophthalmodiagnosis (9)   6.8 Photography (0)     6.8.1 Anterior segment (3)     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 (13)       6.9.1.2 Confocal Scanning Laser Polarimetry (6)     6.9.2 Optical coherence tomography (0)       6.9.2.1 Anterior (7)       6.9.2.2 Posterior (48)     6.9.5 Other (2)   6.10 Fluorescein (ICG) angiography (0)     6.10.1 Anterior segment (0)     6.10.2 Posterior segment (1)   6.11 Bloodflow measurements (25)   6.12 Ultrasonography and ultrasound biomicroscopy (9)   6.13 Provocative tests (2)   6.19 Telemedicine (1)   6.20 Progression (23)   6.30 Other (0) 8 Refractive errors in relation to glaucoma (0)   8.1 Myopia (3)   8.2 Hypermetropia (1)   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 (9)     9.1.2 Juvenile glaucoma (12)     9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (6)     9.1.4 Other (1)   9.2 Primary open angle glaucomas (0)     9.2.1 Ocular hypertension (5)     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 (14)   9.3 Primary angle closure glaucomas (0)     9.3.1 Acute primary angle closure glaucoma (pupillary block) (10)     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 (3)     9.3.5 Primary angle closure (8)     9.3.10 Other (0)   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 (3)     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 (1)     9.4.4 Glaucomas associated with disorders of the lens (0)       9.4.4.1 Exfoliation syndrome (14)       9.4.4.2 Glaucomas associated with cataracts (3)       9.4.4.3 Glaucomas associated with lens dislocation (2)       9.4.4.5 Other (1)     9.4.5 Glaucomas associated with disorders of the retina, choroid and vitreous (0)       9.4.5.1 Neovascular glaucoma (8)       9.4.5.5 Other (8)     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 (9)     9.4.9 Glaucomas associated with elevated episcleral venous pressure (2)       9.4.10 Glaucomas associated with hemorrhage (1)     9.4.11 Glaucomas following intraocular surgery (1)       9.4.11.1 Ciliary block (malignant) glaucoma (1)       9.4.11.2 Glaucomas in aphakia and pseudophakia (9)       9.4.11.3 Epithelial, fibrous, and endothelial proliferation (0)       9.4.11.4 Glaucomas associated with corneal surgery (11)       9.4.11.5 Glaucomas associated with vitreoretinal surgery (2)     9.4.15 Glaucoma in relation to systemic disease (41)     9.4.20 Other (0) 10 Differential diagnosis e.g. anterior and posterior ischemic optic neuropathy (5) 11 Medical treatment (0)   11.1 General management, indication (8)   11.2 Cholinergic drugs (1)   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 (7)     11.3.5 Other (0)   11.4 Prostaglandins (29)   11.5 Carbonic anhydrase inhibitors (2)     11.5.1 Systemic (3)     11.5.2 Topical (0)   11.6 Osmotic treatment (0)   11.7 Treatment of bloodflow (0)   11.8 Neuroprotection (22)   11.9 Gene therapy (2)   11.13 Combination therapy (0)     11.13.1 Betablocker and pilocarpine (0)     11.13.2 Betablocker and carbon anhydrase inhibitor (7)     11.13.3 Betablocker and brimonidine (4)     11.13.4 Betablocker and prostaglandin (6)     11.13.5 Other (0)   11.14 Investigational drugs; pharmacological experiments (19)   11.15 Other drugs in relation to glaucoma (10)   11.16 Vehicles, delivery systems, pharmacokinetics, formulation (25)   11.17 Cooperation with medical therapy e.g. persistency, compliance, adherence (6)   11.20 Other (2) 12 Surgical treatment (0)   12.1 General management, indication (7)   12.2 Laser iridotomy (5)   12.3 Laser iridoplasty (1)   12.4 Laser trabeculoplasty and other laser treatment of the angle (9)   12.7 Surgical iridectomy (0)   12.8 Filtering surgery (0)     12.8.1 Without tube implant (28)     12.8.2 With tube implant or other drainage devices (26)     12.8.3 Non-perforating (7)     12.8.4 Using laser (0)     12.8.5 Other (0)     12.8.10 Woundhealing antifibrosis (24)     12.8.11 Complications, endophthalmitis (7)   12.9 Trabeculotomy, goniotomy (11)   12.10 Cyclodestruction (1)   12.11 Cyclodialysis (0)   12.12 Cataract extraction (0)     12.12.1 Intracapsular (0)     12.12.2 Extracapsular (0)     12.12.3 Phacoemulsification (6)   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 (0) 13 Therapeutic prognosis and outcome (0)   13.1 Prognostic factors (0)   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 (28)

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Abstract #49094 Published in IGR 14-1

Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA

Hendriksz CJ; Al-Jawad M; Berger KI; Hawley SM; Lawrence R; Mc Ardle C; Summers CG; Wright E; Braunlin E
Journal of Inherited Metabolic Disease 2013; 36: 309-322

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Mucopolysaccharidosis type IVA (MPS IVA) or Morquio syndrome is a multisystem disorder caused by galactosamine-6-sulfatase deficiency. Skeletal manifestations, including short stature, skeletal dysplasia, cervical instability, and joint destruction, are known to be associated with this condition. Due to the severity of these skeletal manifestations, the non-skeletal manifestations are frequently overlooked despite their significant contribution to disease progression and impact on quality of life. This review provides detailed information regarding the non-skeletal manifestations and suggests long-term assessment guidelines. The visual, auditory, digestive, cardiovascular, and respiratory systems are addressed and overall quality of life as measured by endurance and other functional abilities is discussed. Impairments such as corneal clouding, astigmatism, glaucoma, hearing loss, hernias, hepatomegaly, dental abnormalities, cardiac valve thickening and regurgitation, obstructive sleep apnea, tracheomalacia, restrictive and obstructive respiratory compromise, and muscular weakness are discussed. Increased awareness of these non-skeletal features is needed to improve patient care.

Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK. chris.hendriksz@bch.nhs.uk

Full article

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Classification:

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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