• Users Online: 928
  • Print this page
  • Email this page
CASE REPORT
Year : 2019  |  Volume : 9  |  Issue : 3  |  Page : 194-197

Clinical ocular manifestations of Taiwanese patients with mucopolysaccharidoses VI (Maroteaux–Lamy syndrome)


1 Department of General Internal Medicine, Mackay Memorial Hospital, Taipei, Taiwan
2 Rare Disease Center, Mackay Memorial Hospital, Taipei, Taiwan
3 Department of Ophthalmology, Cardinal Tien Hospital, Taipei, Taiwan
4 Department of Ophthalmology, Mackay Memorial Hospital, Taipei, Taiwan
5 Rare Disease Center, Mackay Memorial Hospital; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan

Correspondence Address:
Dr. Shuan-Pei Lin
No. 92, Chung-San North Road, Section 2, Taipei 10449
Taiwan
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/tjo.tjo_85_17

Rights and Permissions

Mucopolysaccharidoses (MPS) is a group of lysosomal storage disorders that lead to accumulation of glycosaminoglycans (GAGs) in many tissues and organs, resulting in different clinical features. In this study, we conducted the manifestation changes of refractive error, corneal clouding, and intraocular pressure in two Taiwanese MPS VI patients with enzyme replacement therapy (ERT) initiated at the age of eight. In case 1, hyperopia was noted before and after ERT. Clinical observation showed no significant improvement in corneal clouding after ERT. In case 2, hyperopia was also noted initially before ERT and unable to be measured due to severe corneal opacity. Clinical observation showed no significant improvement in corneal clouding in after ERT, and the best-corrected visual acuity worsen and keratoplasty was needed in both eyes. Case 2 also had ocular hypertension and suspect MPS VI-related. However, due to severe corneal clouding, optic disc changes were hard to examine, and visual field was unable to be tested. Although some literature shows that ERT may be effective in preventing and/or clearing corneal stromal GAGs, accumulation and the timing of treatment initiation cloud be a clinical prognosis predictor; in this experience, no significant improvement of corneal clouding was observed in patients with MPS IV after ERT. Hyperopia and glaucoma were noted, and showed no changes after ERT. Severe corneal clouding can lead to difficulties in diagnosis and monitoring of hyperopia and glaucoma.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed959    
    Printed65    
    Emailed0    
    PDF Downloaded93    
    Comments [Add]    

Recommend this journal