Ocular findings in a case of fucosidosis.
نویسنده
چکیده
The ocular findings in a case of fucosidosis are described and the differential diagnosis is discussed. It is suggested that the level of alpha-L-fucosidase should be estimated in cases of bull's eye retinopathy.
منابع مشابه
Ocular findings in a patient with fucosidosis
Purpose To describe the ocular findings in a patient with fucosidosis, a rare inborn lysosomal storage disease. Observations A 14 year-old female presented with angiokeratomas corporis diffusum, coarse facial features, poor verbal skills, hearing impairment and mild developmental delay. A lysosomal storage enzyme screen confirmed absent activity of α-l-fucosidase consistent with a diagnosis o...
متن کاملOcular Toxicity Caused by Euphorbia Sap: A Case Report
Normal 0 false false false MicrosoftInternetExplorer4 st1:*{behavior:url(#ieooui) } /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-parent:""; mso-padding-alt:0...
متن کاملMulticentric lymphoma in a Rottweiler dog with bilateral ocular involvement: A case report
A 10-year-old, male Rottweilerdog was presented to Small Animal Hospital of Tehran University with a history of lethargy, anorexia, weight loss, vomiting, polyuria, polydipsia and blindness. The dog showed symptoms of depression, high body temperature (39.2 ˚C), tachypnea (40 breaths min-1) and cachexia. In ophthalmic examination, bilateral hyphema (hemmorrahge in anterior chamber of...
متن کاملMR brain imaging of fucosidosis type I.
SUMMARY Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and growth retardation. Fucosidosis type I rapidly evolves toward a progressive neurologic deterioration and d...
متن کاملA case of fucosidosis type II: diagnosed with dysmorphological and radiological findings.
Fucosidosis is a rare autosomal recessive lysosomal storage disorder in which fucose-containing glycolipids, glycoproteins and oligosaccharides accumulate in tissues, as a result of a deficiency of α-L-fucosidase. In this report we describe clinical, dysmorphological and radiological findings of a boy with this disorder. Developmental delay, skeletal deformities and mild coarsening of the face ...
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 60 7 شماره
صفحات -
تاریخ انتشار 1976