ABSTRACT
Wilson disease (WD) is an inherited genetic disorder that is caused by copper metabolism disturbances with main hepatic, neurological, and psychiatric presentation. Deposits of copper accumulate in different organs and may cause a broad range of clinical manifestations. Patients with WD may present with ophthalmological symptoms, or renal, cardiac and osteoarticular involvement. The most common ophthalmological sign as a result of copper accumulation is the Kayser-Fleischer corneal ring, whereas sunflower cataracts are observed rarely. Retinal degeneration, present in WD patients, may serve as a marker of neurodegeneration. Osteoarticular involvement is quite common and includes osteopenia, osteoporosis and arthropathy, which may lead to bone fractures and joint problems mainly affecting knees and wrists. Renal disturbances include tubular dysfunction and renal calculi. A recent cardiac study has shown a higher risk of atrial fibrillation and heart failure in WD patients than in non-WD patients. Autonomic system dysfunction is also observed, but involvement is subclinical in most cases. Another manifestation of WD concerns endocrine system disturbances, which can lead to recurrent abortions, infertility, growth disruption, and parathyroid failure. However, it is possible to become pregnant for females with mild WD symptoms and for those who are compliant with therapy. Hematologic disturbances are frequent and may include acute hemolytic anemia, leucopenia, anemia and low platelet count. Other observed symptoms include lipomas and characteristic of WD skin changes like hyperpigmentation of the legs, xerosis or azure lunulae of the nails. In this paper, we present some of the less common, but nevertheless, important manifestations of WD.
ABSTRACT
Objective To analyze the ophthalmologic characteristics and examinations which caused by vertebral-basilar insuffi- ciency.Design Retrospective case series.Participants 469 eases of vertebral-basilar insufficiency.Methods Retrospective analysis of 469 cases of vertebral-basilar insufficiency patients with ophthalmologic signs' features,incidence,the main cause,color Doppler flow imaging and(or)digital subtraction angiography clearly stenosis location,the degree of stenosis from July 1st 2005 to July ist 2007 in PLA General Hospital.Main Outcome Measures Ophthalmologic signs' related reasons and supplementary examination.Results 96 cases were with the corresponding eye symptoms(20.4%).Vision decreased in 83 cases,diplopia was in 56 cases,ipsilateral hemiopia quadrant blind in 12 cases and depending on deformation in 10 cases,fundus arteriosclerosis in 72 cases,nystagmus in 39 cases,the eye movement disorder in 16 cases.Among 96 patients with associated ocular symptoms,75 patients with color Doppler flow imaging (CDFI)showed unilateral vertebral artery abnormal in 66 cases(88%),among those blood flow velocity decreased in 26 cases,17 cases with vascular plaque stenosis,thinning in 20 cases,3 cases with complete occlusion;different bilateral vertebral artery abnormal in 9 cases(12%),among those velocity dropped in 4 cases,two cases with vascular plaque stenosis and thinning in 3 cases.Forty-five cases with the digital subtraction angiography(DSA),left vertebral artery was abnormal in 24 cases,18 cases with stenosis,occlusion in 5 cas- es,abnormal bending in 1 case.Right vertebral artery was abnormal in 16 cases,13 cases with stenosis,occlusion in 3 cases.Bilateral vertebral artery stenosis was found in 2 cases;vertebral artery stenosis was in 3 patients.Conclusion Vertebral-basilar insufficiency may cause eye-related symptoms,therefore,vision acuity decrease,fundus 'arteriosclerosis,diplopia and nystagmus symptoms are more likely for patients with vertebral-patients with basilar artery insufficiency performance of the eye.(Ophthalmol CHN,2002,16:406-410)