OCULAR MANAGEMENT OF MUCOPOLYSACCHARIDOSIS (MPS)

  • Azzam A. Ahmed College of Medicine-University of Mosul, Mosul, Iraq
  • Muna M. Ahmed College of Medicine, University of Mosul, Mosul, Iraq

Sažetak


Background and objectives: Mucopolysaccharidoses (MPS) are a collection of rare ailments of storage  lysosomes distinguished by the aggregation of glycosaminoglycans (GAGs) at distinct regions of the eye. Follow-up is necessary to enable the right direction for the subsequent therapy. The objective of this research is to define the clinical presentation and treatment modalities in MPS patients. Methods: A total of 16 children diagnosed with MPS were followed-up for 10 years. All cases in this study underwent cycloplegic refraction using 1% cyclopentolate (API) and streak retinoscope (Keeler). Results: The findings confirmed that all patients (100%) presented with corneal cloudiness, half of them (50%) were diagnosed as having glaucoma and just above a third of children (37.5%) suffer from retinopathy. Conclusion: Early detection and diagnosis are crucial to protect the visual function, and experience at different levels is required for reaching the correct diagnosis.

Reference

1.     Kottler U, Demir D, Schmidtmann I Beck M, Pitz S. Central Corneal Thickness in Mucopolysaccharidosis II and VI. Cornea. 2010;29(3):260–62.


2.     Fahnehjelm KT, Ashworth JL, Pitz S, Olsson M, Törnquist AL, Lindahl P, et al. Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidoses. Review article. Acta Ophthalmol. 2012; 90:595–602.


3.     Ashworth JL, Biswas S, Wraith E, Loyd IC. The ocular features of the mucopolysaccharidoses. Eye. 2006; 20:553–63.


4.     Ashworth JL, Kruse FE, Bachmann B, Tormene AP, Suppiej A, Parini R, Guffon N. Ocular manifestation in the mucopolysaccharidoses—review. Clin Exp Ophthalmol. 2010; 28:12–22.


5.     Alroy J, Haskins M, Birk DE. Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, III and VI. Exp Eye Res. 1999; 68:523–30.


6.     Summers CG, Ashworth JL. Ocular manifestations as key features for diagnosing mucopolysaccharidoses. Rheumatology. 2011;50: v34–40.


7.     Cantor LB, Disseler JA, Wilson FM 2nd. Glaucoma is the Maroteaux-Lamy syndrome. Am Ophthalmol. 1989; 108:426–30.


8.     Nowaczyk MJ, Clarke JT, Morin JD. Glaucoma as an early complication of Hurler’s disease. Arch Dis Child. 1988; 63:1091–3.


9.     Spellacy E, Bankes JL, Crow J, Dourmashkin R, Shah D, Watts RWE. Glaucoma in a case of hurler disease. Br J Ophthalmol. 1980; 64:773–8.


10.  Quigley HA, Maumenee AE, Stark WJ. Acute glaucoma in systemic mucopolysaccharidosis I-S. Am J Ophthalmol. 1975; 80:70–2.


11.  Mullaney P, Awad AH, Millar L. Glaucoma in mucopolysaccharidosis 1-H/S. J Pediatr Ophthalmol Strabismus. 1996; 33:127–31.


12.  Mack HG, Symons RCA, de Jong G. Bull’s eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy. Am J Ophthalmol Case Rep. 2017; 9:1–6.


13.  Collins ML, Traboulsi EI, Maumenee IH. Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses. Ophthalmology. 1990; 97:1445–9.


14.  Ashworth JL, Biswas S, Wraith E, Lloyd IC. Mucopolysaccharidoses and the eye. Surv Ophthalmol. 2006; 51:1–17.


15.  Bradbury JA, Martin L, Strachan IM. Acquired Brown's syndrome associated with hurler-Scheie’s syndrome. Br J Ophthalmol. 1989;73(4):305–8.


16.  Ferrari S, Ponzin D, Ashworth JL, Fahnehjelm KT, Summers CG, Harmatz PR, Scarpa M. Diagnosis and management of ophthalmological features in patients with mucopolysaccharidoses. Br J Ophthalmol. 2011; 95:613–9.


17.  Javed A, Aslam T, Jones SA, Ashworth J. Objective quantification of changes in corneal clouding over time in patients with mucopolysaccharidoses. Invest Ophthalmol Vis Sci. 2017;58(2):954–8.


18.  Javed A, Aslam T, Ashworth J. Use of new imaging in detecting and monitoring ocular manifestations of the mucopolysaccharidoses. ACTA Ophthalmologica. 2016;94: e-676–82.


19.  Fahnehjelm KT, Chen E, Winiarski J. Corneal hysteresis in mucopolysaccharidosis I and IV. Acta Ophthalmol. 2012; 90:445–8.


20.  Martin LM, Nilsson AL. Rarebit perimetry and optic disk topography in pediatric glaucoma. J Pediatr Ophthalmol Strabismus. 2007; 44:223–31.


21.  Flaherty M, Geering K, Crofts S, Grigg J. Ocular and electrophysiological findings in a patient with sly syndrome. Ophthalmic Genet. 2017;38(4):376–9.


22.  Flaherty M, Geering K, Crofts S, Grigg J. Ocular and electrophysiological findings in a patient with sly syndrome. Ophthalmic Genet. 2017;38(4):376–9.


23.  Fahnehjelm KT, Tornquist AL, Winiarski J. Ocular axial length and corneal refraction in children with mucopolysaccharidosis (MPS I-Hurler). Acta Ophthalmol. 2012;90(3):287–90.


24.  Fahnehjelm KT, Tornquist AL, Winiarski J. Dry-eye syndrome after allogenic stem-cells transplantation in children. Acta Ophthalmol. 2008; 86:253–8.


25.  Fenzl CR, Teramoto K, Moshirfar M. Ocular manifestations and management recommendations of lysosomal storage disorders I: mucopolysaccharidoses. Clin Ophthalmol. 2015; 9:1633–44.


26.  Harding SA, Nischal KK, Upponi-Patil A, Fowler DJ. Indications and outcomes of deep anterior lamellar keratoplasty in children. Ophthalmology. 2010; 117:2191–5.


27.  Rahmati-Kamel M, Javadi M, Shojaei A, Eslani M, Karimian F. Deep anterior lamellar keratoplasty for Maroteaux-Lamy syndrome. Cornea. 2010; 29:1459–61.


28.  Ganesh A, Bruwer Z, Al-Thihli K. An update on ocular involvement in mucopolysaccharidoses. Curr Opin Ophthalmol. 2013;24(5):379–88.


29.  Pinello L, Busin M, Fontana L, Dua HS. Application of (lamellar) keratoplasty and limbal stem cell transplantation for corneal clouding in the mucopolysaccharidoses—a review. Clin Exp Ophthalmol. 2010;38(Suppl):52–62.

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2024/03/28
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