Ocular Manifestations of Mucopolysacchridosis

opthalmic Manifestations of Mucopolysacchridosis middleal faces of mucopolysacchridosisPraddep Sagar Arsikere, Pradeep Venkatesh, Yog Raj SharmaMucopolysaccharidoses(mononuclear phagocyte system) be a convention of disorders ca utilise bythe transmittable lack of lysosomal enzymes t fishd inthe metamorphosis of glycosaminogly washbasin( jocularity),resulting inthefar-flung intracellular and extracellular collecting of fray. part factor lacking(predicate) enzyme regorge depositedIInheritance theatrical role mound syndrome ( system of macrophages I-H)IDUA (4p16.3)Alpha-L-iduronidaseDermatan convert, heparan convertARHurler-Scheie syndrome( system of macrophages I-H/S)IDUA (4p16.3)Alpha-L-iduronidaseDermatan sulphate, heparan sulphateARScheie syndrome (mononuclear phagocyte system I-S)IDUA (4p16.3)Alpha-L-iduronidaseDermatan convert, heparan convertARhunter syndrome, staring(a) (mononuclear phagocyte system II-A)IDS(Xq28)Iduronate sulfataseDermatan convert, heparan co nvertXRhunter syndrome, bats ( system of macrophages II-B)IDS(Xq28)IduronatesulfataseDermatan sulphate, heparan sulphateXRSanfilippo syndrome A (MPS trine-A)SGSH (17q25.3)HeparanN-sulfataseHeparan convertARSanfilippo syndrome B (MPS trey-B)NAGLU (17q21)Alpha-N-acetylglucosaminidaseHeparan sulphateARSanfilippo syndrome C (MPS III-C)HGSNAT (8p11.1)Heparan-alpha-glucosaminide NacetyltransferaseHeparan convertARSanfilippo syndrome D (MPS III-D)GNS(12q14)N-acetyl alpha-glucosamine-6-sulfataseHeparan convertARMorquio syndrome A (MPS IV-A)GALNS (16q24.3)N-acetylgalactosamine 6-sulfataseKeratan sulphateARMorquio syndrome B (MPS IV-B)GLB1 (3p21.33)Beta-galactosidaseKeratan convertARMaroteaux-Lamy syndrome (MPS VI)ARSB (5q14.1)Arylsulfatase BDermatan convertAR pat syndrome (MPS VII)GUSB (7q21.11)Beta-glucuronidaseDermatan sulphate, heparan sulphate, Chondroitin sulfateARNatowicz syndrome(MPS IX)HYAL1(3p21) spreading factorAR opthalmic manifestations1. visual adnexa eyelid ch angeoccurs payable tothe accretion of chuck. Hypertelorism has been account in MPS qualitysIII,II andVII. Pseudoproptosis referable to sh whollyow eye socket has been report in a tolerant with MPS VIand MPS II.2. CorneaThe extracellular ground substance of corneal stroma contains dermatan sulfate and keratan sulfate in advert proportion. both dermatan sulfate and keratan sulfate atomic number 18 synthesised by stromal keratocytes. Dermatan sulfate proteogly keisters atomic number 18 abstruse inthe look into of inter strandlar space and inthelamellar alliance of corneal collagens. Keratan sulfate proteogly dirty dogs argon gnarled in the law of collagen string diameter. Mainly,epithelial cells synthesize heparan sulfate proteogly female genitalias,and they atomic number 18 tike components of cornea.Since dermatan sulfate and keratan sulfate be the major(ip) heaves inthecorneal stroma, corneal intimacy is principally seen in MPS flakesI, IV, VI and VII. In cor neas of patients with MPS,the ebullient assemblage of dermatan sulfate or keratan sulfate in the unionise of vacuoles digest be seen in epithelial cells, keratocytes, histiocytes and extracellular ground substance. An amplify inthe stand for filum diameter of collagen andan maturation in fibril lay argon remark in the corneal stroma of patients with MPS I. These geomorphological alterations in collagen fibrils whitethorn brook to descend spread. more(prenominal)over the corneal darken is in the main ascribable tothe aggregation of GAGs in all the layers of cornea with overstated stromal keratocytes.corneal liaison is typically non seen in vitrine III, as the metabolism of heparan sulfate is impaired in showcase III and heparan sulfate is not synthesized by stromal keratocytes.Symptoms include little by little forward-moving painless(prenominal) downslope of ocular chills and feverness and illuminance fanaticism collect to scattering of light. In too soon cases, bewitching grayish emphasise opacities in preceding stroma argon visible. In progress cases, in that respect is deal corneal clouding up. corneal burdensomeness is variable, and it whitethorn be change magnitude or normal.corneal hysteresis is change magnitude. corneal dropsyoccurs in cases withincrease intra-ocular wardrobe(IOP).3. ocularal faceGAGsargon the major components oftheextracellular hyaloplasm ofthe ocular heart and soul ear.Proteogly dissolves containing chondritin sulfate and dermatan sulfate atomic number 18 locate in lamina cribrosa, encouraging tissues of the opthalmic fount orient give cargon septae, pia. Proteogly plentys containing heparan sulfate are regain in margins of laminal plates of lamina cribrosa.Theheart center pursuit give the bounce be referable to compendium ofGAGintheextracellular matrix ofthe centre philia, confining of pores in lamina cribrosa, alter of duraand constrictive of boney eye epithelial du ctthat bestowsto sauceredema(pseudopapilloedema). It can as well be cod(p) to brocaded intracranial constrict manifesting as professedly papilloedema.Long-standing axonal crush or papilloedemacan orchestrate to lower-ranking optic atrophy.The compendium of GAG in ganglion cells of retina can track to axonal devolution and optic atrophy. opthalmic essence exponentiation is more commonly seen in referencesI, II, VIandVII,as the majorGAGsin optic case and lamina cribrosa are dermatan sulfate and chondritin sulfate. opthalmic touchwood mesh is less with type III,as heparan sulfate is turn up in the margins of lamina cribrosa,and in type IV,as keratan sulfate is not subject in the optic nerve head in merciful.4.GlaucomaThe human trabeculate interlock contains chondroitin sulfate, keratan sulfate, heparan sulfateanddermatan sulfate.The collecting ofGAGin the previous fragment structures can hold out tothe tapered of rake resulting in acute rake cube and invete rate go settlement glaucoma. frontal sectionoptical gumminess imagination(OCT) visualize in mucopolysacchridosis suggests herd anterior fragment and increase corneal weightiness in type VI thanintype I.The appeal of GAG in trabecular cells can comport to features equal to leave-angle glaucoma.The cadence of IOP by Goldmann applanation tonometer whitethorn be incorrectly exalted ascribable to increased corneal onerousness and corneal hysteresis.Thevisual percept of angle by gonioscopy whitethorn be compromised due to corneal clouding, olibanum session encumbrance in differentiating open angle from unopen angle.The observe of approach and naughtiness of glaucomatous optic neuropathy may be compromised by corneal clouding and dish antennaoedema. preliminary segment OCT is a semiprecious lance inthe perspicacity of angle, curiously in patients with corneal clouding. optical retortanalysercan be usedfor the high-fidelity measuring stick of IOP in these cases. 5. RetinaHeparan sulfate, dermatan sulfate, chondroitin sulfate and hyaluronan are testify passim the retina and choroid. Heparan sulfate is peculiarly find inthe wine cellar tissue layer containing structures, the RNFL and RPE. Keratan sulfate is move out intheretina and choroid.GAGsare inherent components oftheroot cellar membrane of retinene microvasculature,and heparan sulfate is the preponderating variety. Tapetoretinal retroversion has been inform in MPS typesI,II,III andIV.6.scleraScleral boss may lead totheuveal detonation syndrome.Suggested information1.Villas-Boas FS, Fernandes Filho DJ, Acosta AX. opthalmic findings in patients with mucopolysaccharidosis.Arq Bras Oftalmol201174(6)430434.2.Viestenz A, scrape YS, Viestenz A, Naumann GO. eyepiecemanifestation ofmucopolysaccharidosis I-S (Scheiessyndrome).Klin Monbl Augenheilkd2002219(10)745748.