Mucopolysaccharidosis with Ocular Manifestations – A Case Report

Authors

  • Dr. R. P. Gupta
  • Dr. Kshitija Panditrao

Keywords:

Mucopolysaccharidosis (MPS), Glycosaminoglycans (GAGs), Polydactyly, a-L-iduronidase Enzyme

Abstract

A 13 years old male patient presented with abdominal pain, joint pain and blurring of vision. Systemic examination revealed delayed mile stones, joint deformities, hepatosplenomegaly, broad face, prominent jaw, polydactyly and short stature. Ocular examination revealed visual acuity of 6/24 in both eyes, telecanthus, clouding of cornea with mild diffuse infiltration in stroma & Partial optic atrophy. Urine revealed increased Glycosaminoglycans. Blood testing showed no measurable a-L- iduronidase enzyme activity. Patient was advised enzyme replacement t ameliorate further progress of the disease. Early detection & appropriate management through a multidisciplinary approach is recommended to improve quality of life.

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Published

2015-12-14

How to Cite

Gupta, D. R. P., & Panditrao, D. K. . (2015). Mucopolysaccharidosis with Ocular Manifestations – A Case Report. VIMS Health Science Journal, 2(4), 147–150. Retrieved from https://vimshsj.edu.in/index.php/main/article/view/193

Issue

Vol. 2 No. 4 (2015): December

Section

Case Report

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