Ocular Involvement in Hereditary Amyloidosis
نویسندگان
چکیده
منابع مشابه
Hereditary transthyretine amyloidosis in Slovenia
The prevalence of transthyretin (TTR) amyloidosis in Europe is supposed to be less than one per 100,000 individuals. Slovenia is a rather small country with approximately two million inhabitants and we know of two families with 4 patients with this disease. The first patient (family A) was diagnosed in 2008 when also one of the asymptomatic family members who agreed to molecular genetic testing...
متن کاملXANTHOMA WITH OCULAR AND CARDIOVASCULAR INVOLVEMENT IN A BOY
In this report, a 10 year old boy with both tendinous and tuberous xanthoma is presented. Premature corneal arcus and aortic stensosis were associated findings in this case. Tuberous and tendinous xanthomas are two clinical varieties of one disease, both of which are seen in type II hyperlipoproteinemia. Increased serum cholesterol with pathological findings of skin lesions with oculocardia...
متن کاملAcase report of primary amyloidosis with prominent hepatic involvement
primary amyloidosis is a rare disrder wihich is diagnosed by extracellular deposition of proteinaceous material in different organs.in this report,a case of this disease with prominent hepatic involvement is presented.the case is a 63 years old male refered with abdominal enlargement,weight loss,generalized pruritus,anorexia and vague abdominal pain started from six months ago.on physical exami...
متن کاملCombined pulmonary involvement in hereditary lysozyme amyloidosis with associated pulmonary sarcoidosis: a case report.
Sarcoidosis is a multisystem inflammatory disorder of unknown cause which can affect any organ system. Autosomal dominant lysozyme amyloidosis is a very rare form of hereditary amyloidosis. The Arg64 variant is extraordinarily rare with each family showing a particular pattern of organ involvement, however while Sicca syndrome, gastrointestinal involvement and renal failure are common, lymph no...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Genes
سال: 2021
ISSN: 2073-4425
DOI: 10.3390/genes12070955