Volume 31, Issue 200 (9-2021)
J Mazandaran Univ Med Sci 2021, 31(200): 161-166 |
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Rezaei L, Aghaei N. Ocular Manifestation in a Rare Case of
Mucopolysaccharidosis VI. J Mazandaran Univ Med Sci 2021; 31 (200) :161-166
URL: http://jmums.mazums.ac.ir/article-1-16288-en.html
URL: http://jmums.mazums.ac.ir/article-1-16288-en.html
Abstract: (963 Views)
Mucopolysaccharidosis VI is an inherited autosomal recessive disease that causes glycosaminoglycan deposition in different tissues due to arylsulfatase deficiency that can cause various systemic and ocular manifestations. The disease is rarely reported. This paper presents the case of a five-year-old girl with low vision and discusses ocular manifestations of Mucopolysaccharidosis VI. The patient was referred to Kermanshah Imam Khomeini Hospital due to low vision. On examination, she was found with multiple systemic and ocular symptoms. Laboratory results showed arylsulfatase B deficiency. According to the clinical manifestations and laboratory results, she was diagnosed with mucopolysaccharidosis type VI and treated with Naglazyme. Awareness of ocular symptoms in these patients could be of great help in making proper diagnosis and choosing the best treatment that could improve the quality of life in these patients.
Type of Study: Case Report |
Subject:
Eye
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