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مقاله
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Abstract
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Title:
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Ocular manifestation of mucopolysaccharidosis type VI (maroteaux-lamy syndrome): a case report
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Author(s):
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Leila Rezaei,Farid Daneshgar,Saba jamshidbeigy,Fariba sheikhi shushtari,Ahmad Jahanbakhshi
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Presentation Type:
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Poster
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Subject:
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Posterior Segment
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Others:
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Presenting Author:
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Name:
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Leila Rezaei
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Affiliation :(optional)
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Emam khomeini eye research center,Kermanshah university of medical science
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E mail:
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leyla_rezaei60@yahoo.com
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Phone:
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08337278759
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Mobile:
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09188370655
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Purpose:
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The mucopolysaccharidosis (MPS) type VI is a rare autosomal recessive metabolic disorder can cause different ocular and systemic manifestations.
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Methods:
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A 5-years-old girl with MPS type VI that referred to us with visual blurring of both eyes. She had large head,macroglossia, short stature, coarse facial features, joint contractures, mild hepatosplenomegaly, skeletal deformities,MVP and mild MR in echocardiography and low level of arylsulfatase B.
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Results:
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Ocular examination showed BCVA of 6/10 and diffuse corneal clouding of both eyes and retinal atrophy in OCT.
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Conclusion:
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Interesting point of this case is various ocular feature such as retinal atrophy for the first time.
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Attachment:
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