Cases reported "Eye Diseases"

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1/11. Primary ocular Epstein-Barr virus-associated non-Hodgkin's lymphoma in a patient with AIDS: a clinicopathologic report.

    OBJECTIVE: To report an unusual case of chronic multifocal chorioretinitis with vitritis in a patient with acquired immunodeficiency syndrome (AIDS) that was resistant to antiviral and antitoxoplasmic medication and required a retinal biopsy for definitive diagnosis. methods: Vitreous biopsy, pars plana vitrectomy, and retinal biopsy were performed. The vitreous biopsy material was sent for bacterial, fungal, and viral culture, and the vitreous cassette was sent for cytology. The retinal biopsy material was divided and sent for polymerase chain reaction testing for toxoplasmosis and virology and pathologic tissue analysis. RESULTS: Vitreous cytology showed a mixed population of lymphocytes and histiocytes, but all other microbiologic and virologic studies were negative. Tissue analysis revealed an infiltrate of atypical mononuclear cells extending from the inner limiting membrane through the outer plexiform layer characteristic of a B cell, non-Hodgkin's lymphoma of the central nervous system (NHL-CNS). in situ hybridization for the Epstein-Barr virus (EBV) was positive. An extensive systemic evaluation did not show evidence of extraocular tumor. CONCLUSION: Although rare, primary ocular NHL-CNS can be seen in patients with AIDS, and its clinical presentation often closely resembles other disorders. To our knowledge, this case represents the first ocular NHL in which EBV is shown to be associated.
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ranking = 1
keywords = lyme
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2/11. Rearrangement of immunoglobulin gene in metastatic waldenstrom macroglobulinemia to the vitreous.

    PURPOSE: To report metastatic waldenstrom macroglobulinemia cells with immunoglobulin heavy chain gene rearrangement in the vitreous and the blood. methods: A 58-year-old man with waldenstrom macroglobulinemia developed bilateral vitreitis. Diagnostic vitrectomy was performed on the left eye. The vitreous cells and the peripheral blood lymphocytes were analyzed using microdissection and polymerase chain reaction amplification. RESULTS: vitrectomy specimen of the left eye contained a few degenerated cells. Molecular analysis showed immunoglobulin heavy chain gene rearrangement at the third complementary determining region of the vitreal infiltrating cells and peripheral blood lymphocytes. CONCLUSIONS: waldenstrom macroglobulinemia rarely metastasizes to the vitreous. Molecular detection of the immunoglobulin heavy chain gene third complementary determining region rearrangement is helpful in the diagnosis of the malignancy. microdissection combined with polymerase chain reaction is a useful and innovative tool for molecular pathological investigation.
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ranking = 2
keywords = lyme
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3/11. The expanding clinical spectrum of ocular lyme borreliosis.

    OBJECTIVE: To delineate the clinical manifestations of ocular Lyme borreliosis, while concentrating on new symptoms and findings and the phase of appearance of ophthalmologic disorders. DESIGN: Observational case series. PARTICIPANTS: Ten patients with Lyme borreliosis-associated ophthalmologic findings previously reported from the Helsinki University Central Hospital in addition to 10 new cases that have since been diagnosed. INTERVENTION/TESTING: The patients underwent medical and ophthalmologic evaluation. The diagnosis of Lyme borreliosis was based on medical history, clinical ocular and systemic findings, determinations of antibodies to borrelia burgdorferi by enzyme-linked immunosorbent assay and immunoblot analysis, the detection of dna of B. burgdorferi by polymerase chain reaction, and exclusion of other infectious and inflammatory causes. MAIN OUTCOME MEASURES: Ocular complaints, presenting ophthalmologic findings, and the stage of Lyme borreliosis were recorded. RESULTS: Four patients presented with a neuro-ophthalmologic disorder, five had external ocular inflammation, 10 patients had uveitis, and one had branch retinal vein occlusion. One patient developed episcleritis and one patient developed abducens palsy within 2 months of the infection incident. In the remaining 14 patients in whom the time of infection was traced, the ocular manifestations appeared in the late stage of Lyme borreliosis. Two patients with a neuro-ophthalmologic disorder and one with external ocular inflammation experienced severe photophobia, whereas the main reported symptom of the patients with uveitis was decreased visual acuity. Four patients with external ocular disease and one with a neuro-ophthalmologic disorder experienced severe periodic ocular or facial pain. retinal vasculitis developed in seven patients with uveitis. CONCLUSIONS: Lyme borreliosis can cause a variety of ocular manifestations, which develop mainly in the late stage of the disease. photophobia and severe periodic ocular pain can be characteristic symptoms of Lyme borreliosis. In the differential diagnosis of retinal vasculitis, Lyme borreliosis should be taken into account, especially in endemic areas.
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ranking = 596.76122924836
keywords = lyme borreliosis, borreliosis, lyme
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4/11. Diagnostic yield of vitrectomy in eyes with suspected posterior segment infection or malignancy.

    PURPOSE: To determine the yield of diagnostic pars plana vitrectomy in eyes with suspected posterior segment inflammation or malignancy when clinical examination and systemic laboratory testing did not yield a specific diagnosis. DESIGN: Non-comparative interventional case series PARTICIPANTS: Eighty-seven consecutive patients (90 eyes) who underwent diagnostic pars plana vitrectomy from 1989 through 1999. INTERVENTIONS: Vitreous samples were analyzed in a directed manner based on the preoperative clinical examination and systemic laboratory testing. MAIN OUTCOME MEASURES: diagnosis from each test performed on the vitreous samples. RESULTS: Diagnostic vitrectomy was performed alone in 6 eyes (7%) and as part of a therapeutic procedure in the remaining 84 eyes. The diagnostic tests performed most frequently included cytopathology (83%), microbiologic culture and sensitivity (43%), polymerase chain reaction (PCR) (36%), and intraocular antibody levels for T. canis (14%). Of these, intraocular antibody testing and PCR had the highest positive yield, 46% and 39%, respectively. overall, directed vitreous analysis identified a specific cause in 35 eyes (39%). Of the 65 cases in which an underlying infection was suspected preoperatively, the procedure yielded a specific diagnosis in 27 (42%). When intraocular malignancy was considered preoperatively (71 eyes), a diagnosis of intraocular lymphoma was obtained in seven (10%). This difference between these diagnostic yields was significant (P = 0.02, Fisher's exact test). CONCLUSIONS: Diagnostic vitrectomy with directed vitreous fluid analysis yields a specific cause and guides subsequent therapy in a high percentage of cases. This procedure is a valuable adjunct in cases that cannot be diagnosed by less invasive methods.
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ranking = 1
keywords = lyme
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5/11. Artificial iris diaphragm and silicone oil surgery.

    In order to avoid contact between silicone oil and the cornea and subsequent painful corneal dystrophy in aniridial eyes, an artificial iris diaphragm was constructed. It consists of polymethylacrylat (PMMA) and simulates the situation of the iris with a central pupillary opening and inferior iridectomy. To date, these diaphragms have been implanted in 11 cases of the severest ocular trauma with accompanying aniridia and proliferative vitreoretinopathy. In the presence of sufficient residual secretion of the ciliary body (9 cases), the diaphragm assumes the function of normal iris and prevents the silicone oil from coming into contact with the corneal endothelium. The transparent diaphragm ensures a view through to the fundus. In the early postoperative period, there was, as anticipated, a fibrinous reaction in the area of the anterior segment.
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ranking = 1
keywords = lyme
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6/11. Sudden reversible vitritis after keratoprosthesis: an immune phenomenon?

    PURPOSE: To report our experience with late vitritis associated with keratoprosthesis (KPro). methods: Between 1990 and 2003, 218 patients underwent an all-polymethylmethacrylate, collar button-shaped KPro surgery. Eight patients developed a total of 12 episodes of sudden, massive vitritis. Five of these patients had an Ahmed shunt implant, 3 had anterior vitrectomy during surgery, and 4 had a soft contact lens in place. Preoperative diagnoses were multiple graft failures, chemical burn, stevens-johnson syndrome, or ocular cicatricial pemphigoid. All patients were maintained on prophylactic topical ofloxacin 0.3% or polymyxin-B/trimethoprim, as well as prednisolone acetate 1% (in 2 cases, medroxyprogesterone 1%), at least twice daily. vancomycin (14 mg/mL) was also given twice daily in 2 patients. RESULTS: Vitritis occurred in 8 patients (12 episodes), 2 to 23 months postoperatively. All patients presented with sudden, very marked decrease in vision, with little or no pain, tenderness, conjunctival redness, or discharge. Eight of the 12 events were subjected to vitreous tap and injection of antibiotics and steroids on the day of presentation. Cultures grew staphylococcus epidermidis, only in liquid (broth) media, in 3 cases; the other 5 showed no growth. The vitritis episodes resolved after 2 to 9 weeks. Full recovery to pre-episode status of a quiet eye with clear vitreous was seen in all patients. visual acuity recovered almost completely or completely (mental debilitation in one patient made accurate assessment uncertain). CONCLUSIONS: This phenomenon of sudden vitritis after KPro, with few other symptoms and with complete recovery, would be uncharacteristic of a bacterial endophthalmitis. It may represent a uveitic immune phenomenon.
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ranking = 1
keywords = lyme
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7/11. Neuro-ocular Lyme borreliosis.

    Any patient who has a Bell's palsy (unilateral or bilateral), aseptic meningitis, chronic fatigue syndrome, atypical radiculoneuropathy, presenile dementia, atypical myopathy, or symptoms of atypical rheumatoid arthritis should be asked specifically about the following: visits to highly endemic areas, any known tick bites, any skin lesion suggestive of erythema migrans, any history of palpitations or of prior Bell's palsy, aching in joints (especially the knees), paresthesias, chronic fatigue and depression, forgetfulness, and eye problems. Any patient showing a chronic iritis with posterior synechiae, vitritis in one or both eyes, an atypical pars planitis-like syndrome, big blind spot syndrome, and swollen or hyperemic optic discs should be asked the same questions. The physician should send one red-top tube of blood containing 2 to 3 ml serum to microbiology Reference Laboratory, 10703 Progress Way, Cypress, CA 90630-4714, requesting a Lyme/treponemal panel. For $90 the patient will receive an RPR test with titer, serum FTA-ABS test, serum Lyme IFA IgG and IgM, and a serum Lyme ELISA test. If these tests are within normal limits and the physician is still suspicious, a Western blot can be ordered on serum. A green top tube with fresh white blood cells sent out by overnight express on a Monday or Tuesday will produce a Lyme PCR and a lymphocyte stimulation test. Finally, R.K. Porschen, director of MRL Laboratory, will provide information on the urine antigen test on an investigational basis. A careful history with emphasis on the specific questions noted above, a complete neuro-ophthalmological and physical examination ruling out other causative problems, and the laboratory studies here discussed will usually provide sufficient data to choose therapy. Much further active research into Lyme borreliosis is an important priority in medicine.
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ranking = 109.40280606588
keywords = borreliosis
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8/11. A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity.

    Epidemiological as well as biochemical evidence of recent years has established that a low plasma level of high density lipoprotein-cholesterol is a predictor for the risk of coronary artery disease. However, there is a heterogeneous group of rare familial disorders, characterized by severe high density lipoprotein deficiency, in which the predicted increased risk is not clearly apparent. One such disorder has been called fish eye disease to reflect the massive corneal opacification seen in these patients. In this report, we describe the biochemical and genetic presentation of two German fish eye disease homozygotes and their family members. Vertical transmission of a decrease in the specific activity of lecithin-cholesterol acyltransferase (EC 2.3.1.43) indicated that this enzyme was a candidate gene for harboring the defect responsible for this disorder. Direct sequencing of dna segments amplified by the polymerase chain reaction (PCR) that encode the exons of the lecithin-cholesterol acyltransferase gene led to the identification of a homozygous mutation resulting in the substitution of threonine at codon 123 for an isoleucine residue in both individuals. family analysis in an extended pedigree was used to establish a causal relationship between this mutation and the biochemical phenotype for fish eye disease. The homozygous presence of this mutation in two phenotypically homozygous members of an unrelated Dutch family with fish eye disease further supports this finding.
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ranking = 1
keywords = lyme
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9/11. Ocular disease in Caribbean patients with serologic evidence of Lyme borreliosis.

    Four patients from Caribbean and Central American countries with ocular disease and serologic evidence of Lyme borreliosis are discussed. To our knowledge this is the first report of lyme disease from this geographic area. Two patients exhibited ocular inflammatory disease, and two patients developed optic neuropathy. A brief discussion of Lyme borreliosis, its serologic diagnosis, and its treatment is presented.
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ranking = 131.28336727906
keywords = borreliosis
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10/11. A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.

    Hereditary progressive arthro-ophthalmopathy, or "Stickler syndrome," is an autosomal dominant osteochondrodysplasia characterized by a variety of ocular and skeletal anomalies which frequently lead to retinal detachment and precocious osteoarthritis. A variety of mutations in the COL2A1 gene have been identified in "Stickler" families; in most cases studied thus far, the consequence of mutation is the premature generation of a stop codon. We report here the characterization of a COL2A1 gene mutation in the original kindred described by Stickler et al. [1965]. Conformational sensitive gel electrophoresis (CSGE) [Ganguly et al., 1993] was used to screen for mutations in the entire COL2A1 gene in an affected member from the kindred. A prominent heteroduplex species was noted in the polymerase chain reaction (PCR) product from a region of the gene including exons 17 to 20. Direct sequencing of PCR-amplified genomic dna resulted in the identification of a base substitution at the A-2 position of the 3' splice acceptor site of IVS17. Sequencing of dna from affected and unaffected family members confirmed that the mutation segregated with the disease phenotype. Reverse transcriptase-PCR analysis of poly a rna demonstrated that the mutant allele utilized a cryptic splice site in exon 18 of the gene, eliminating 16 bp at the start of exon 18. This frameshift eventually results in a premature termination codon. These findings are the first report of a splice site mutation in classical Stickler syndrome and they provide a satisfying historical context in which to view COL2A1 mutations in this dysplasia.
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ranking = 1
keywords = lyme
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