Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0344232 (blurred vision)
 2,072 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Reported is the case of a 24-year-old Finnish woman who developed malignant hypertension while taking an oral contraceptive (OC) that contained 30 mcg of ethinyl estradiol. She presented with blurred vision, but reported no other remarkable signs or symptoms during the 5 months in which she had been using OCs. Laboratory tests at admission revealed incomplete systemic lupus erythematosus (SLE) with DNA antibodies and high levels of antiphospholipid antibodies. Her blood pressure was 220-140 mmHg. OC use was discontinued and antihypertensive treatment initiated, with good results. 2 years later, however, the patient developed epileptic seizures and an area of local atrophy in the cerebellum was identified through computerized tomography. In the 4-6th years after initial presentation, the patient experienced 3 miscarriages, all at 7-8 weeks of gestation. 1 year after presentation, the patient satisfied 4 of the criteria for SLE (positive DNA and antiphospholipid antibodies, thrombocytopenia, leukopenia, and proteinuria). At present, the patient's symptoms are being controlled with carbamazepine and metroprolol. The patient's older sister, who had never used OCs, had SLE. It appears that high levels of antiphospholipid antibodies are an additional risk factor for the development of vascular complications in OC users but are not induced by OCs. Similarly, while OCs are not believed to cause SLE, they can exacerbate the disease or unmask a lupus diathesis.
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PMID:Malignant hypertension and antiphospholipid antibodies as presenting features of SLE in a young woman using oral contraceptives. 174 6

The three best-described genetic polymorphisms of drug metabolism--the debrisoquin/sparteine type of oxidative polymorphism (hereafter referred to as the debrisoquin polymorphism), the polymorphism of N-acetylation, and the mephenytoin type of oxidative polymorphism--are reviewed. For all three polymorphisms, the poor-metabolizer phenotype is inherited as an autosomal recessive trait. The debrisoquin and mephenytoin oxidative polymorphisms involve defects in two separate cytochrome P450 enzymes. The prevalence of the poor-metabolizer phenotype for debrisoquin ranges between 2% and 10% for groups of various ethnic origins. The poor-metabolizer phenotype for mephenytoin comprises about 5% of the Caucasian population and about 20% of the Japanese population. N-acetyltransferase is a cytosolic enzyme whose clinical polymorphism was discovered using isoniazid as the substrate probe. The prevalence of the slow-acetylator phenotype among American and European Caucasian and American black groups is about 50%; among the Japanese it is about 10%. More than 20 agents are substrates for debrisoquin hydroxylase, about 15 for N-acetyltransferase, and 3-5 for mephenytoin. In poor metabolizers, debrisoquin can cause hypotension, and sparteine can cause blurred vision, headache, and dizziness. Clinical consequences of the slow-acetylator phenotype include increased susceptibility to systemic lupus erythematosus induced by procainamide and hydralazine, peripheral neuropathy induced by isoniazid, hydralazine, and dapsone, and sulfasalazine-induced dose-related leukopenia, nausea, vomiting, headache, and vertigo. After administration of mephenytoin, poor metabolizers have increased somnolence and intellectual impairment. Awareness of genetic polymorphisms of drug metabolism should improve understanding of interindividual variability in drug disposition and response.
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PMID:Polymorphic drug metabolism. 268 60

The records of 37 patients with systemic lupus erythematosus (SLE) followed at The Children's Hospital of Philadelphia between 1968 and 1978 were reviewed for evidence of central nervous system (CNS) involvement. Criteria for CNS involvement included evidence of organic brain syndrome, electroencephalographic abnormalities with symptoms referable to CNS, or objective neurologic signs. Sixteen of 37 children had CNS involvement (43%). Thirteen patients had CNS involvement at the onset of SLE. Three patients had late onset CNS manifestations 1 to 2 years after the diagnosis of SLE. The most frequently observed symptoms were headache, behavior disorder, lethargy, diplopia, blurred vision, memory alteration, dizziness, and alteration of consciousness. The most frequently observed neurologic signs were seizures, cranial nerve palsy, ataxia, papilledema, nystagmus, meningitis, tremor, rigidity, cortical blindness, and coma. Neuropsychiatric manifestations included organic brain syndrome, functional psychosis, and personality disorder. Laboratory tests showed elevated cerebrospinal fluid opening pressure and protein, negative cultures, and abnormal electroencephalograms and computerized axial tomography scans. Fourteen of 16 children with CNS manifestations are alive. Thirteen had a mean IQ of 89 by the Wechsler Intelligence Tests. Twelve are in educational programs. One required long-term psychiatric care. A residual neurologic abnormality, a seizure disorder, was present in 3. CNS involvement with SLE in children carries a favorable prognosis.
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PMID:Central nervous system involvement in childhood systemic lupus erythematosus. 731 16

A 57-year-old man was admitted with massive nasal bleeding and blurred vision in January, 1991. Laboratory examination showed a prominent decrease of platelet number (1,000/microliters) and a marked elevation of PAIgG (4,025 ng/10(7) cells). Serological test revealed positive antinuclear factor, low concentration of C3 and C4, high level of immune complex and polyclonal hypergammaglobulinemia. The patient had uveitis and bilateral hilar lymphadenopathy with a high level of serum lysozyme and negative PPD skin test. The diagnosis of SLE complicated with thrombocytopenia and sarcoidosis was made. In spite of the various trials of treatment, such as oral prednisolone (PSL), methyl-PSL pulse therapy, plasma exchange, high-dose intravenous gammaglobulin, cyclophosphamide, azathioprine, vincristine, colchicine, cyclosporine-A, mizoribine, danazol, ascorbic acid and interferon alpha 2b, the platelet number could not be raised enough to keep more than 10,000/microliters, though the level of PAIgG decreased to 200 ng/10(7) cells. Finally, the administration of 75 mg/day of dapsone brought about a significant rise in platelet number within 2 weeks. The maximum number of 6.2 x 10(4)/microliters was obtained after 2 months. Then the patient stopped himself to take the drug, but the platelet number remained around 4-5 x 10(4)/microliters. Same dose of the drug was again prescribed to confirm the effect of dapsone. The platelet number increased to 7.9 x 10(4)/microliters in 2 weeks, and gradually returned to 5 x 10(4)/microliters after cessation of the drug. Thus being certainly effective against thrombocytopenia, dapsone should be considered as one of the therapeutic choice for refractory autoimmune thrombocytopenia.
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PMID:[Effectiveness of dapsone on refractory immune thrombocytopenia in a patient with systemic lupus erythematosus associated with sarcoidosis]. 836 Sep 92

The ophthalmologic safety of antimalarial drugs is well established, but absolute safety cannot be assured. Three types of side effects may develop. Corneal deposits and neuromuscular-associated blurred vision are always reversible and therefore benign. Visual loss has occurred in patients with retinopathy. Retinopathy may be divided into true retinopathy and premaculopathy. It is true retinopathy that may be associated with visual loss, while premaculopathy consists of subtle visual field and funduscopic abnormalities. These premaculopathic changes are generally completely reversible with drug discontinuation and have not been shown to progress. Hydroxychloroquine appears safer than chloroquine when currently accepted equivalent doses are used. Fewer than 20 patients with true retinopathy caused by hydroxychloroquine have been reported; more patients have developed true retinopathy when taking chloroquine. The safety profile is most dependent on low daily dose and regular ophthalmologic monitoring. The optimal strategy of ophthalmologic testing has not yet been determined, but visual acuity, funduscopic examination and visual field examination should be monitored. Self-administered ophthalmologic testing with Amsler grids may contribute additional safety but is not a replacement for physician testing.
Lupus 1993 Feb
PMID:Ophthalmologic safety profile of antimalarial drugs. 848 66

A 32-year-old woman was admitted for evaluation of fever, blurred vision in the left eye, nasal and gingival bleeding and arthralgia. There was a macular hemorrhage, a tender mass in the left lower abdomen and edema of both legs. She also had anemia, mild thrombocytopenia, platelet function abnormalities, kidney dysfunction, and albuminuria. Serology was positive for antinuclear antibodies and double-stranded DNA; complement level was low, and circulating anticoagulants were present. Kidney biopsy established the diagnosis of systemic lupus erythematosus (SLE). Abdominal sonography demonstrated perisplenic and pelvic bleeding. A pulse therapy of corticosteroids with low-dose oral cyclophosphamide, along with platelet transfusions and infusions of deamino-d-arginine vasopressin resulted in symptomatic and laboratory improvement. Bleeding stopped, platelet function became normal, kidney function tests returned to normal and she became seronegative. It is emphasized that platelet function abnormalities are rare in SLE. The thrombocytopenia was too mild to cause spontaneous bleeding, and lupus anticoagulant is usually associated with thromboembolic complications and not with spontaneous bleeding. It is therefore conceivable that in this case platelet function abnormalities were responsible for the spontaneous bleeding, the presenting sign which led to establishing the diagnosis.
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PMID:[Bleeding due to platelet dysfunction as a presenting symptom of systemic lupus erythematosus]. 867 11

A 64-year-old woman complained of blurred vision in her right eye. A pale optic disc with a blurred nasal margin was found in the right fundus. An inferior altitudinal defect in the right eye was observed on Goldmann perimetry. Her right visual acuity deteriorated to 0.1. Her antinuclear antibody and lupus anticoagulant test results were positive. Intravenous methylprednisolone (1,000 mg/day) improved her right visual acuity to 1.0. We believe that the anterior ischemic optic neuropathy in our patient may be associated with the presence of positive antinuclear antibody and lupus anticoagulant findings.
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PMID:Anterior ischemic optic neuropathy in a patient with positive antinuclear antibody and lupus anticoagulant findings. 914 58

Primary antiphospholipid syndrome (APS) is a disease producing vascular thrombus with antiphospholipid antibody without association with autoimmune diseases as systemic lupus erythematosus. Retinal vein occlusion is a rare vascular manifestation in primary APS. We describe 2 cases of primary APS presenting with developing blurred vision. Each had central retinal vein occlusion and high titer of IgG anticardiolipin antibody.
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PMID:Retinal vein occlusion in two patients with primary antiphospholipid syndrome. 1185 60

Purtscher-like retinopathy is a retinopathy with vascular manifestations resembling Purtscher's retinopathy associated with autoimmune disorders such as lupus erythematosus. We report two cases of blurred vision associated with multiple whitish patches scattered over the macular and peripapillary areas. In the absence of trauma, these symptoms led us to systemic lupus erythematosus. The diagnosis was confirmed by the immunological and biological examinations. A steroid treatment was given with poor visual response. Purtscher-like retinopathy is a rare complication of systemic lupus erythematosus and there is some controversy about its pathogenesis and its treatment.
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PMID:[Purtscher-like retinopathy in systemic lupus erythematosus. Two cases]. 1196 19

Pseudotumor cerebri (PC) is a syndrome characterized by intracranial hypertension in the absence of any space-occupying lesion, hydrocephalus, cerebral sinus thrombosis and biochemical or cytological abnormalities in the CSF. PC has ben associated with several factors such as systemic conditions or drugs. We report here the case of a patient who presented with headache, vomiting and blurred vision accompanied by bilateral papilledema and had been diagnosed with systemic lupus erythematosus (SLE) seven years before. Treatment was started with high-dose corticosteroids with rapid resolution of the clinical symptoms and papilledema of the patient.
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PMID:[Pseudotumor cerebri and systemic lupus erythematosus]. 1260 79


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