Skip Navigation Links
 Venue 
 تاریخ های مهم 
 Registration 
 Pre Registered 
 Abstracts 
 برنامه همایش 
 Exhibition 
 Personal page 
  
 Archive 
Scroll up
Scroll down
                             نهمین همایش تحقیقات چشم پزشکی و علوم بینایی ایران       جشنواره فیلم       سومین همایش بهاره چشم پزشکی
Skip Navigation Links
        مکان برگزاری
        تاریخ های مهم
        ثبت نام
        ثبت نام شدگان
        مقالات
        برنامه همایش
        نمایشگاه
        صفحه شخصی
        جستجوی سخنران
        آرشیو
 
مقاله Abstract


Title: Hurler Syndrome; A Rare Case Report
Author(s): Hamidreza Hasani, MD
Presentation Type: Poster
Subject: Cornea & lens
Others:
Presenting Author:
Name: Hamidreza Hasani
Affiliation :(optional) Eye Research center, Rassoul Akram Hospital, Iran University of Medical Sciences, Tehran, Iran
E mail: hamidrezahasani@yahoo.com
Phone: 02188438227
Mobile: 09121759054
Purpose:

Mucopolysaccharidosis (MPS) is a group of metabolic disorders due to the lack of lysosomal enzymes that are needed to degrade glycosaminoglycans. This is characterized by the accumulation of glycosaminoglycosides (GAGs) in many types of body tissues, including the eyes .MPS is divided into different types of clinical symptoms and includes a range of phenotypes. Mucopolysaccharidoses type I (MPS I) due to the absence or insufficient of the α-L-iduronidase enzyme. MPSI classified into three types of clinical features and severity; Hurler (MPS IH), Scheie (MPS IS), and Hurler-Scheie (MPS IH-S). MPS IH is the most severe type. MPS IS has milder systemic and ophthalmic manifestations, and MPS IH / S has an intermediate phenotype. The MPS manifestations include skeletal, cardiac and respiratory problems. MPS IH; Hurler syndrome presents with coarse facial features and respiratory disease in early life . ophthalmologic examinations may detect associated corneal opacification. MPS eye manifestations include corneal clouding, retinopathy, glaucoma, and optic nerve abnormalities that vary in severity in different subtypes.

Methods:

We reported a case of MPSI in A 2-years old boy referred for evaluation of bilateral corneal opacities noticed by the parents. The visual acuity was fixed and follow in both eyes. RAPD was negative, and IOP with tonopen was 12mm in the right eye and 13mm in the left eye. The Fundoscopic examination was normal. The facial dysmorphism and skeletal abnormalities also were seen in this case.

Results:

Modern treatments include enzyme replacement (ERT) and bone marrow transplantation (BMT) in MPS. These treatments provide a longer and better quality of life for many patients.[1] Patients with MPS require regular ophthalmologic examination for the diagnosis, monitoring, and treatment of eye complications.

Conclusion:

Corneal opacity in children should be considered as a manifestation of Hurler syndrome.

Attachment: 98hurler-portrait.pptx





Last News

  - نهمین همایش تحقیقات چشم پزشکی و علوم بینایی ایران
  - جشنواره فیلم
  - سومین همایش بهاره چشم پزشکی