Glaucoma in a case of Hurler disease.
نویسندگان
چکیده
The electron microscopic appearances of the corneoscleral and iris tissue removed at operation from a child with Hurler disease and glaucoma showed distinctive swollen cells with intracellular inclusions similar to those which are observed in other tissues in these patients and which are due to abnormal lysosomal storages of mucopolysaccharides. Some recent observations on the possible relationship between mucopolysaccharides and the drainage of fluid from the anterior chamber are briefly reviewed and correlated with the present observations. The development of glaucoma in this patient is thought to be associated with the presence of the mucopolysaccharide-containing cells in the region of the aqueous drainage channels.
منابع مشابه
Glaucoma Surgery in Pregnancy: A Case Series and Literature Review
AbstractGlaucoma management in pregnant patients is a real challenge, especially when the glaucoma is not controlled with medications. We report the results of 6 incisional glaucoma surgeries for the management of medically uncontrolled glaucoma patients during pregnancy. This retrospective, case series was conducted on the 6 eyes of 3pregnant patients with uncontrolled glaucoma using maximum t...
متن کاملPeripapillary Intrachoroidal Cavitation and Optic Pit in a Case of High Myopia and Glaucoma
Purpose: To report a case of peripapillary intrachoroidal cavitation (choroidal schisis) and optic pit in a case of high myopia and open-angle glaucoma. Case report: A 30-year-old high myopic man was referred to our clinic for presumed peripapillary choroidal tumors. In funduscopy, there were two yellow-orange and slightly elevated peripapillary lesions in both eyes with indistinct margins. A s...
متن کاملMarfan Syndrome in an Iranian Family: A Case Series
Marfan syndrome (MFS) is a genetic disorder which is inherited by autosomal dominant traits. In MFS, lens displacement and cardiovascular involvement are important causes of morbidity and mortality in the clinical course of the disease. In this case study, the ocular involvement in a family with severe penetration of MFS is reported. Twelve members of a family (father, two daughters, three sons...
متن کاملI-Cell Disease with GNPTAB Gene Mutation
I-cell disease is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical features of this condition mimic that of Hurler disease mutation studies help in the diagnosis. We present a case of I-cell disease in a neonate with GNPTAB gene mutation.
متن کاملOphthalmological findings in a patient with mucolipidosis III (pseudo-hurler polydystrophy). A case report.
Mucolipidosis III (Pseudo-Hurler Polydystrophy) is a rare autosomal recessively inherited Hurler-like disease. The ophthalmological findings in these patients include a triad of mild retinopathy, corneal clouding and hyperopic astigmatism. We present a patient with these ophthalmological characteristics.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- The British journal of ophthalmology
دوره 64 10 شماره
صفحات -
تاریخ انتشار 1980