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1.
Middle East Afr J Ophthalmol ; 28(3): 196-198, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35125805

RESUMO

Blau syndrome (BS) is a rare granulomatous disease with autosomal dominant inheritance. It is characterized by a triad of dermatitis, arthritis, and recurrent uveitis. This case presents the onset of panuveitis in BS after intraocular surgery. A 10-year-old boy presented to the outpatient clinic with retinal detachment in the left eye after 6 years following early-onset cataract surgery. Bilateral panuveitis occurred 3 weeks after surgical repair and resulted in a total visual loss in the left eye and was persistent to conventional treatment in the right eye. Genetic testing revealed a mutation in NOD2 gene. The addition of adalimumab to the treatment regimen resulted in long-term uveitis control and maintenance of 20/70 vision in the right eye. We propose that NOD2-mediated inflammatory cascade can be activated by intraocular surgery and results in the manifestation of BS.


Assuntos
Artrite , Pan-Uveíte , Sarcoidose , Uveíte , Artrite/genética , Criança , Humanos , Masculino , Proteína Adaptadora de Sinalização NOD2/genética , Pan-Uveíte/etiologia , Pan-Uveíte/genética , Sinovite , Uveíte/etiologia , Uveíte/genética
2.
Diagn Pathol ; 11: 29, 2016 Mar 17.
Artigo em Inglês | MEDLINE | ID: mdl-26987877

RESUMO

BACKGROUND: Vitreoretinal lymphoma (VRL) is a life- and sight-threatening disorder. The aim of this study was to analyze the usefulness of the cell block method for diagnosis of VRL. METHODS: Sixteen eyes in 12 patients with VRL, and 4 eyes in 4 patients with idiopathic uveitis presenting with vitreous opacity were enrolled in this study. Both undiluted vitreous and diluted fluids were isolated during micro-incision vitrectomy. Cell block specimens were prepared in 19 eyes from diluted fluid containing shredding vitreous. These specimens were then submitted for HE staining as well as immunocytological analyses with antibodies against the B-cell marker CD20, the T-cell marker CD3, and cell proliferation marker Ki67. Conventional smear cytology was applied in 14 eyes with VRL using undiluted vitreous samples. The diagnosis of VRL was made based on the results of cytology, concentrations of interleukin (IL)-10 and IL-6 in undiluted vitreous, and immunoglobulin heavy chain gene rearrangement analysis. RESULTS: Atypical lymphoid cells were identified in 14 out of 15 cell block specimens of VRL (positive rate: 93.3 %), but in 5 out of 14 eyes in conventional smear cytology (positive rate: 35.7 %). Atypical lymphoid cells showed immunoreactivity for CD20 and Ki67. Seven cell block specimens were smear cytology-negative and cell block-positive. The cell block method showed no atypical lymphoid cells in any patient with idiopathic uveitis. CONCLUSIONS: Cell block specimens using diluted vitreous fluid demonstrated a high diagnostic sensitivity and a low pseudo-positive rate for the cytological diagnosis of VRL. The cell block method contributed to clear differentiation between VRL and idiopathic uveitis with vitreous opacity.


Assuntos
Linfoma Intraocular/patologia , Pan-Uveíte/patologia , Neoplasias da Retina/patologia , Manejo de Espécimes/métodos , Corpo Vítreo/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/análise , Diagnóstico Diferencial , Feminino , Rearranjo Gênico , Genes de Cadeia Pesada de Imunoglobulina/genética , Humanos , Imuno-Histoquímica , Linfoma Intraocular/química , Linfoma Intraocular/genética , Linfoma Intraocular/cirurgia , Masculino , Pessoa de Meia-Idade , Pan-Uveíte/genética , Pan-Uveíte/metabolismo , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Neoplasias da Retina/química , Neoplasias da Retina/genética , Neoplasias da Retina/cirurgia , Estudos Retrospectivos , Fixação de Tecidos , Vitrectomia , Corpo Vítreo/química , Corpo Vítreo/cirurgia
3.
Br J Ophthalmol ; 99(4): 566-70, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25595174

RESUMO

BACKGROUND/AIMS: A pathogenic role of Th17 cells in uveitis has become clear in recent years. Therefore, in the present study, we aimed to evaluate the possible influence of the IL17A locus on susceptibility to non-anterior uveitis and its main clinical subgroups. METHODS: Five IL17A polymorphisms (rs4711998, rs8193036, rs3819024, rs2275913 and rs7747909), selected by tagging, were genotyped using TaqMan assays in 353 Spanish patients with non-anterior uveitis and 1851 ethnically matched controls. RESULTS: The case/control analysis yielded a consistent association between two of the analysed genetic variants, rs8193036 and rs2275913, and the presence of panuveitis under a dominant model (pFDR=2.86E-03, OR=2.26, 95% CI 1.42 to 3.59 and pFDR=0.033, OR=1.83, 95% CI 1.13 to 2.97, respectively). Subsequently, a specific association of both polymorphisms with the diffuse form of the disease was evident in the subphenotype analysis when considering this same genetic model (panuveitis vs posterior and intermediate uveitis: rs8193036, p=0.020; rs2275913, p=0.038). Independent effects of rs8193036 and rs2275913 were observed by conditional regression analysis. CONCLUSIONS: Polymorphisms within the IL17A locus show a novel association with panuveitis. Our data agree with the elevated levels of this cytokine that are found in patients with uveitis, supporting a crucial role of Th17 cells in this pathology. SUBTITLE: Our results clearly evidenced the role of IL17A as a novel genetic risk factor for panuveitis, thus suggesting the implication of Th17 cells in the extensive inflammation of the uveal tract that occurs in this subtype of uveitis.


Assuntos
Predisposição Genética para Doença , Interleucina-17/genética , Pan-Uveíte/genética , Polimorfismo de Nucleotídeo Único , Adulto , Feminino , Frequência do Gene , Técnicas de Genotipagem , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase em Tempo Real , Células Th17/patologia , População Branca
4.
Am J Ophthalmol ; 157(3): 678-86.e1-2, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24321473

RESUMO

PURPOSE: To describe chorioretinal lesions in pediatric uveitis that are associated strongly with the HLA-DR, DQ class II type associated with tubulointerstitial nephritis and uveitis (TINU). DESIGN: Retrospective, observational case series. SETTING: University-based clinic. PATIENT POPULATION: Fifteen consecutive patients with onset of bilateral panuveitis at less than 16 years of age who were seen between September 2004 and October 2012 and 6 pediatric patients with confirmed TINU. OBSERVATION PROCEDURE: HLA-DR, DQ class II DNA typing. MAIN OUTCOME MEASURE: Detection of the HLA-DRB1*01 and HLA-DQB1*05 risk alleles for TINU. RESULTS: Fourteen (93%) of the 15 patients with otherwise unexplained pediatric panuveitis typed HLA-DRB1*01-HLA-DQB1*05. Eleven (73.3%) of 15 patients had bilateral sharply demarcated, usually inferior, 200- to 300-µm spots of chorioretinal atrophy, and 4 (27.7%) of 15 patients had bilateral clusters of 500- to 750-µm poorly defined orange choroidal lesions without overlying atrophy of the retinal pigment epithelium. None had interstitial nephritis. Four of the 6 definite TINU cases had class II typing and TINU risk alleles; all 6 had bilateral panuveitis. The frequency of risk alleles was statistically higher in those with pediatric panuveitis than in the North American population and in nonpanuveitis pediatric uveitis patients assumed to have the North American HLA distribution (P < .0001, Fischer exact test). Positive likelihood ratios were 9.92 to 5.18, depending on assumptions regarding pretest probability of disease. CONCLUSIONS: Recognition of characteristic chorioretinal lesions in otherwise unexplained pediatric panuveitis, supported by selective HLA class II DNA typing, is useful in narrowing diagnostic possibilities and directing further evaluations. Panuveitis is underappreciated as a manifestation of TINU.


Assuntos
Cadeias beta de HLA-DQ/genética , Cadeias HLA-DRB1/genética , Nefrite Intersticial/diagnóstico , Nefrite Intersticial/genética , Pan-Uveíte/diagnóstico , Pan-Uveíte/genética , Uveíte/diagnóstico , Uveíte/genética , Adolescente , Alelos , Criança , Pré-Escolar , Impressões Digitais de DNA , Feminino , Genótipo , Teste de Histocompatibilidade , Humanos , Masculino , Estudos Retrospectivos
5.
Am J Ophthalmol ; 155(6): 1068-1074.e1, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23497844

RESUMO

PURPOSE: To determine whether the complement factor H (CFH) tyrosine 402 histidine (Y402H) variant, recently shown to be associated with age-related macular degeneration (AMD) and multifocal choroiditis, is associated with specific ocular sarcoidosis clinical phenotypes in black and white persons. DESIGN: Case-control study. METHODS: The CFH Y402H polymorphism (rs1061170) was genotyped in 41 subjects with ocular sarcoidosis and 393 control subjects. Allele frequencies in the ocular sarcoidosis cases were compared with controls using chi-square score tests. Genotypic model-based (dominant, recessive, and additive) associations of the rs1061170 allele were tested using multivariate logistic regression. Bayesian information criteria were used to formalize model selection. Genotypes were correlated with disease characteristics and severity of ocular inflammation. RESULTS: The C allele (rs1061170) was found in 35% of controls, but occurred with a significantly higher frequency (48.7%) in ocular sarcoidosis cases (odds ratio, 1.72; 95% confidence interval, 1.09 to 2.78; P = .018). Logistic regression demonstrated an association between rs1061170 and ocular sarcoidosis in 2 of 3 genetic models (additive, P = .0078; recessive, P = .0018). Posterior uveitis and panuveitis were overrepresented significantly in cases with the homozygous variant genotype (CC, 91%; P = .047). The population-attributable risk related to this CFH risk variant was 20%. CONCLUSIONS: The Y402H polymorphism of CFH seems to be associated with ocular sarcoidosis in black and white persons. Carriage of the CFH Y402H polymorphism in both alleles is associated with an increased risk for posterior uveitis and panuveitis presentation. The prognostic importance of this genotype will require prolonged follow-up studies.


Assuntos
Pan-Uveíte/genética , Polimorfismo de Nucleotídeo Único , Sarcoidose/genética , Uveíte Posterior/genética , População Negra/genética , Estudos de Casos e Controles , Fator H do Complemento/genética , Feminino , Frequência do Gene , Genótipo , Técnicas de Genotipagem , Histidina , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Tirosina , População Branca/genética
6.
J AAPOS ; 15(2): 205-7, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21596301

RESUMO

Blau syndrome (MIM 186580) is a rare autoinflammatory, familial granulomatous condition that occurs secondary to a single amino acid mutation of the NOD2/CARD15 gene on chromosome 16p12-q21. We report the case of a 2.5-year-old girl who presented for ophthalmic examination in the setting of rash and synovitis. Initially, small, evanescent, ovoid corneal subepithelial opacities unique to Blau syndrome were observed. She later developed a fulminant panuveitis that responded to immunomodulatory therapy. Subsequent genetic testing confirmed the diagnosis of Blau syndrome. Despite immunosuppression, at almost 7 years of age, she continues to have persistent panuveitis with vision of 20/20.


Assuntos
Proteína Adaptadora de Sinalização NOD2/genética , Pan-Uveíte/genética , Mutação Puntual , Artrite , Pré-Escolar , Cromossomos Humanos Par 16/genética , Doenças dos Nervos Cranianos/diagnóstico , Doenças dos Nervos Cranianos/tratamento farmacológico , Doenças dos Nervos Cranianos/genética , Feminino , Humanos , Imunossupressores/uso terapêutico , Pan-Uveíte/diagnóstico , Pan-Uveíte/tratamento farmacológico , Sarcoidose , Sinovite/diagnóstico , Sinovite/tratamento farmacológico , Sinovite/genética , Uveíte/diagnóstico , Uveíte/tratamento farmacológico , Uveíte/genética , Acuidade Visual/fisiologia
7.
Invest Ophthalmol Vis Sci ; 52(6): 3573-81, 2011 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-21357402

RESUMO

PURPOSE: The white-dot syndromes are a heterogenous group of chorioretinal disorders that have many common clinical features. Whether these disorders represent distinct clinical entities or different manifestations of the same disease warrants further interrogation. Two white-dot syndromes were investigated, with closely overlapping phenotypes--multifocal choroiditis with panuveitis (MFCPU) and punctate inner choroidopathy (PIC)--for differences in clinical course and genotype frequency at IL10 and TNF loci, known to be associated with noninfectious uveitis. METHODS: Twelve polymorphisms were genotyped, spanning the TNFA and IL10 genomic regions, in 61 patients with MFCPU or PIC and 92 population controls from the United Kingdom and Republic of Ireland. RESULTS: There were clear differences in clinical course between patients with MFCPU and PIC which had prognostic significance. However, both patient groups demonstrated similar associations with the IL10 haplotype, IL10htSNP2(-2849)AX/htSNP5(+434)TC and negative associations with the TNF haplotype, LTA+252A/TNFhtSNP1(-308)G/TNFhtSNP2(-238)G/TNFhtSNP3(+488)A/TNFd3. CONCLUSIONS: Despite clear differences in clinical course and outcome, MFCPU and PIC may still represent two manifestations of the same disease, given their similar genetic associations with IL10 and TNF loci, which are known to be associated with noninfectious uveitis and autoimmunity, in general. Definitive proof will necessitate genomewide sequence analysis. However, the data also support the notion that epigenetic factors have a strong effect on clinical phenotype.


Assuntos
Corioidite/genética , Haplótipos/genética , Interleucina-10/genética , Pan-Uveíte/genética , Fator de Necrose Tumoral alfa/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Corioidite/diagnóstico , Feminino , Antígenos de Histocompatibilidade Classe I/genética , Antígenos de Histocompatibilidade Classe II/genética , Humanos , Masculino , Pessoa de Meia-Idade , Pan-Uveíte/diagnóstico , Reação em Cadeia da Polimerase , Polimorfismo de Nucleotídeo Único/genética , Acuidade Visual/fisiologia , Adulto Jovem
8.
Ophthalmic Genet ; 31(1): 24-9, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20141355

RESUMO

PURPOSE: Del22q11.2, also known as DiGeorge syndrome, has a spectrum of ocular, facial and systemic features. Despite features of T cell dysfunction, infection and autoimmunity (including juvenile idiopathic arthritis), uveitis has not been described in patients with DiGeorge syndrome. METHODS: We describe a case of a 25-year-old male with bilateral granulomatous panuveitis who after initial investigation and treatment for an infectious cause was determined to have autoimmune-related uveitis with evidence on clinical, laboratory and imaging assessments suggestive of ocular sarcoidosis. RESULTS: The patient was found to have a normal T cell count and T cell proliferative response that was compared to a control patient, and phenotypes determined by flow cytometry were normal. However, the CD4/CD8 ratio in this patient was slightly lower than normal and the number of CD28 negative T cells, in both CD4 and CD8 populations, were significantly higher than a control. CONCLUSIONS: The significance of these T cell abnormalities is unknown in the context of this patient's uveitis but is suggestive of a role in autoimmunity, which is a known phenomenon in del22q11.2 syndrome, although autoimmune-related uveitis is not a previously described feature.


Assuntos
Doenças Autoimunes/genética , Deleção Cromossômica , Cromossomos Humanos Par 22/genética , Síndrome de DiGeorge/genética , Pan-Uveíte/genética , Adulto , Doenças Autoimunes/diagnóstico , Doenças Autoimunes/imunologia , Relação CD4-CD8 , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/imunologia , Citometria de Fluxo , Angiofluoresceinografia , Humanos , Hibridização in Situ Fluorescente , Ativação Linfocitária/fisiologia , Contagem de Linfócitos , Masculino , Pan-Uveíte/diagnóstico , Pan-Uveíte/imunologia , Linfócitos T/imunologia , Tomografia de Coerência Óptica
9.
Inflamm Res ; 58(7): 401-5, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19255721

RESUMO

PURPOSE: The association of known ACE gene and eNOS gene polymorphisms with BD in a group of Turkish patients with or without ocular involvement has been investigated. METHODS: The ACE and eNOS gene polymorphisms were investigated in 73 BD patients and 90 controls. RESULTS: The distrubition of "DD", "ID" and "II" genotypes of the ACE gene were 32 (43.8%), 29 (39.8%) and 12 (16.4%) for BD patients and 32 (35.5%), 35 (38.9%) and 23 (25.6%) for healthy controls. There was no significant difference between the groups (p = 0.140, OR 1.44, CI 0.90-2.30). When Behçet patients with ocular involvement were compared to the control group, statistical significance was found (p = 0.049, OR 2.18, CI 1.00-4.81). The "bb", "ba", and "aa" genotype frequencies of the eNOS gene were 48 (65.8%), 23 (31.5%), and 2 (2.7%) for patients with BD and 75 (83.3%), 15 (16.7%), and 0 (0%) for healthy controls, respectively. The significant difference found in allelic frequencies between the two groups (p = 0.011, OR 2.32, CI 1.11-4.87). When Behçet patients with ocular involvement were compared, sharper statistical significance was found (p = 0.001,OR 4.61,CI 1.85-11.52). DISCUSSION: The ACE gene polymorphism does not play a role in the pathogenesis of BD. The findings of the eNOS gene polymorphisms confirmed the significant association with BD and even more in patients with ocular involvement.


Assuntos
Síndrome de Behçet/genética , Óxido Nítrico Sintase Tipo III/genética , Pan-Uveíte/genética , Peptidil Dipeptidase A/genética , Vasculite Retiniana/genética , Síndrome de Behçet/complicações , Estudos de Casos e Controles , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Polimorfismo Genético , Turquia/epidemiologia
10.
Graefes Arch Clin Exp Ophthalmol ; 247(5): 661-6, 2009 May.
Artigo em Inglês | MEDLINE | ID: mdl-18982344

RESUMO

BACKGROUND: Epidemiological studies demonstrate a prevalence of Adamantiades-Behçet's disease (ABD) in the range of 0.12-420 per 100,000 inhabitants, with the highest rates in Istanbul, Turkey, and the lowest rates in the USA. Ophthalmological data on the prevalence of ocular involvement are limited for ABD in Germany, because most epidemiological studies are based on rheumatological or dermatological data. Berlin is the city with the highest number of non-native German inhabitants, and its multi-ethnic character renders it uniquely appropriate for epidemiological studies on ABD. METHODS: We retrospectively analyzed all ABD patients seen in our department since 1982. All patients fulfilled the criteria of the International Study Group for Behçet's Disease. We found 140 patients (63 female, 77 male), with a mean follow-up of 6.4 years (0.5-22 years). RESULTS: The mean age was 23 at the first manifestation and 32 when the full-blown disease was noted. The mean age at onset of ocular involvement was 30. Most of the patients were of Turkish (n = 73) or German (n = 34) origin. Fifty-six percent developed ocular involvement, which was the first manifestation in 8.6% and the second manifestation in 19.3% of cases. CONCLUSIONS: More than half the patients developed ocular involvement. The calculated prevalence of ocular involvement in ABD is 1.77/100,000 inhabitants for the municipality of Berlin.


Assuntos
Síndrome de Behçet/epidemiologia , Iridociclite/epidemiologia , Neurite Óptica/epidemiologia , Pan-Uveíte/epidemiologia , Vasculite Retiniana/epidemiologia , Adolescente , Adulto , Distribuição por Idade , Idade de Início , Síndrome de Behçet/genética , Berlim/epidemiologia , Criança , Pré-Escolar , Etnicidade , Feminino , Humanos , Iridociclite/diagnóstico , Iridociclite/genética , Masculino , Pessoa de Meia-Idade , Neurite Óptica/diagnóstico , Neurite Óptica/genética , Pan-Uveíte/diagnóstico , Pan-Uveíte/genética , Prevalência , Vasculite Retiniana/diagnóstico , Vasculite Retiniana/genética , Estudos Retrospectivos , Distribuição por Sexo , Turquia/etnologia
11.
Curr Rheumatol Rep ; 7(6): 427-33, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16303101

RESUMO

Blau Syndrome (BS) is an inheritable disorder characterized by granulomatous polyarthritis, panuveitis, and exanthema. It was described by Edward Blau in 1985, the same year in which Douglas Jabs reported a very similar family. Clinically indistinguishable from early onset sarcoidosis (EOS), both are now known to share a mutated form of caspase recruitment domain-15 (CARD 15), a protein involved in activation of nuclear factor kappa B which is in turn an up-regulator of pro-inflammatory cytokine transcription. An association between BS and EOS was suspected for years given the striking similarities of the core triad (arthritis-uveitis-dermatitis) and a common emerging pattern of systemic involvement. Hence, the familial form (BS) and the sporadic form (EOS) are almost certainly the same illness/defect, inherited in the first and acquired in the second as a result in most cases of a de novo mutation. Another form of granulomatous arthritis with uveitis, Crohn's disease, has also been associated with mutations in CARD 15 (albeit at a different domain) and despite similar phenotypes there are obvious differences including gut inflammation and pyoderma gangrenosum in Crohn's disease. This paper will review the clinical characteristics of these three disorders and their association with mutations in the CARD 15 gene.


Assuntos
Artrite Juvenil/epidemiologia , Artrite Juvenil/etiologia , Artrite/genética , Exantema/genética , Granuloma/genética , Pan-Uveíte/genética , Adolescente , Idade de Início , Artrite/complicações , Artrite/patologia , Artrite Juvenil/patologia , Biópsia por Agulha , Criança , Exantema/complicações , Exantema/patologia , Feminino , Granuloma/complicações , Granuloma/patologia , Humanos , Imuno-Histoquímica , Peptídeos e Proteínas de Sinalização Intracelular/genética , Masculino , Proteína Adaptadora de Sinalização NOD2 , Pan-Uveíte/complicações , Pan-Uveíte/patologia , Prognóstico , Medição de Risco , Sensibilidade e Especificidade , Síndrome
12.
Br J Ophthalmol ; 89(12): 1634-7, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16299146

RESUMO

BACKGROUND: Increased serum levels of homocysteine (Hcy) have been reported in patients with Behçet's disease (BD) with an established risk factor for vascular involvement. Recently, the authors demonstrated that elevated Hcy levels are associated with ocular involvement in such patients. On the other hand, elevated levels of Hcy can result from genetic errors. Indeed, a mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) gene influences Hcy metabolism and, therefore, MTHFR C677T polymorphism provokes hyperhomocysteinaemia. AIM: To investigate the possible genetic factor for the elevation of plasma Hcy level in patients with BD by examining gene interaction with the MTHFR C677T polymorphism, a crucial factor of the Hcy metabolism. In addition, the authors aimed to evaluate if there is an association between the C677T polymorphism and the presence of ocular involvement in such patients. METHOD: A total of 59 patients with BD (25 men, 34 women) with a mean age of 34.9 years and 42 age and sex matched healthy control subjects (19 men, 23 women; mean age 32.2) were included in this investigation. MTHFR gene polymorphism was investigated by the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) of a genomic DNA fragment at nucleotide 677 in all subjects in both groups. The genetic equilibrium is assumed for the gene frequencies of the MTHFR polymorphism in both samples. RESULTS: The genotype of the MTHFR gene differed between the Behçet's patients and control subjects (TT: 11.9 v 2.4%; CT: 55.9 v 61.9%; CC: 32.2 v 35.7 %). TT homozygous genotype was more frequently in BD patients than the controls, though the difference was not significant (p = 0.063). In BD patients with ocular involvement, however, the frequencies of MTHFR TT homogenetic type (27.8%) were significantly and statistically higher than those in BD patients without ocular involvement (4.9%, p = 0.022, odds ratio = 7.5), or the controls (2.4%, p = 0.003, odds ratio = 20.0). TT homozygous genotype was associated with an increased risk for ocular involvement. CONCLUSION: Elevated serum levels of Hcy seem to be a result of C677T polymorphism of the MTHFR gene, with increased TT individuals over CC and CT genotype BD patients. Although no association was shown between the MTHFR reductase C677T polymorphism and the increased risk of oral aphtahe or genital ulcers, a mutation in this gene was associated with an increased risk of ocular involvement, suggesting genetic instability with a potential initiation of Hcy lowering therapy in this patient group.


Assuntos
Síndrome de Behçet/genética , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo Genético , Adulto , Síndrome de Behçet/sangue , Feminino , Predisposição Genética para Doença , Genótipo , Homocisteína/sangue , Humanos , Masculino , Pessoa de Meia-Idade , Pan-Uveíte/genética
13.
Clin Biochem ; 38(5): 425-32, 2005 May.
Artigo em Inglês | MEDLINE | ID: mdl-15820772

RESUMO

OBJECTIVES: Uveitis is an eye disease that affects humans worldwide. Inflammation of the uveal tract is termed uveitis. Alpha-1-antitrypsin (AAT) deficiency is one of many factors that may be involved in abnormalities such as liver and lung disease, inflammatory joint diseases, and inflammatory eye diseases. In this study, the role of AAT in uveitis is analyzed. DESIGN AND METHODS: AAT phenotyping and serum-trypsin inhibitory capacity (S-TIC) experiments were performed on 103 patients who were referred to the ALZAHRA eye center in Zahedan (southeast of Iran). The same experiments were performed on 167 people who did not suffer from any eye or systemic diseases and served as a control group. RESULTS: The results revealed that the frequency of M1S, M2S, M1Z, and MV phenotypes were significantly higher in uveitis patients (P < 0.001). There was no difference in AAT phenotype frequencies between various types of uveitis (P = 0.1). CONCLUSION: AAT deficiency appears to be a risk factor for uveitis in southeast Iran. More investigation is needed to establish potential benefits of AAT phenotyping tests and AAT therapy in the diagnosis and treatment of uveitis cases with unclear etiology.


Assuntos
Antígeno HLA-B27/genética , Uveíte/genética , alfa 1-Antitripsina/genética , Estudos de Casos e Controles , Etnicidade/genética , Humanos , Irã (Geográfico) , Pan-Uveíte/genética , Fenótipo , Inibidores da Tripsina/sangue , Uveíte Anterior/genética , Uveíte Posterior/genética
14.
Rev Med Interne ; 24(7): 464-8, 2003 Jul.
Artigo em Francês | MEDLINE | ID: mdl-12829220

RESUMO

INTRODUCTION: There is no consensus for the treatment of severe recurrent uveitis. Immunosuppressive drugs have inconstant efficiency and may result in serious adverse effects. We report the cases of two brothers suffering from severe recurrent idiopathic panuveitis dramatically improved following alpha interferon therapy. EXEGESIS: Two 28 and 32 years old brothers presented with an idiopathic recurrent panuveitis for 4 and 5 years respectively. They both had a HLA B5 haplotype. However they had no clinical symptoms of Behçet's disease. In both cases panuveitis recurred three or four times yearly despite corticosteroid and cyclosporin therapies. The treatment with alpha interferon improved visual acuity in both cases. The older brother had no recurrence throughout the period of treatment and after a 1 year follow-up. The other one was improved and the ocular lesions have been stabilised for nine months follow-up. CONCLUSION: - Alpha interferon therapy seems efficient in severe idiopathic panuveitis. This treatment is well tolerated without ophthalmologic adverse effects. The optimal posology and the duration of treatment need to be determined.


Assuntos
Fatores Imunológicos/farmacologia , Interferon-alfa/farmacologia , Pan-Uveíte/tratamento farmacológico , Pan-Uveíte/genética , Adulto , Humanos , Fatores Imunológicos/administração & dosagem , Interferon-alfa/administração & dosagem , Masculino , Pan-Uveíte/patologia , Recidiva , Índice de Gravidade de Doença , Resultado do Tratamento
15.
Graefes Arch Clin Exp Ophthalmol ; 236(6): 451-60, 1998 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-9646091

RESUMO

BACKGROUND: The etiology of peripheral multifocal chorioretinitis with panuveitis (MCP) is unclear. Characteristic signs of MCP are punched-out, white chorioretinal lesions of the lower fundus periphery, chronic smoldering chorioretinal inflammation, vitritis, and mild inflammation of the anterior chamber. In this retrospective study we investigated clinical and immunogenetic abnormalities in MCP in older patients. PATIENTS AND METHODS: 20 patients (18 women, 2 men), median age 70.5 years, were investigated clinically by ophthalmologists and were typed for HLA class I antigens using the standard microlymphocytotoxicity test. Typing for HLA-DR antigens was performed by polymerase chain reaction with sequence-specific primers (PCR-SSP). The HLA controls consisted of healthy people (108 for HLA class I, 114 for HLA class II). RESULTS: MCP was bilateral in 18 patients. Disease-related symptoms were present for 8 months (median) before diagnosis. The main presenting symptoms or findings were glaucoma (in 11 patients), visual loss (7), iritis (5), and vitritis (2). Anterior segment changes were frequently seen: keratitic precipitates (32 eyes), anterior chamber cells (25 eyes), aqueous flare (26 eyes), posterior synechiae (22 eyes), secondary glaucoma (15 eyes), and iris neovascularization (8 eyes). All patients had vitritis and typical chorioretinal fundus lesions. Fourteen patients developed cystoid macular edema (bilateral in seven cases). Subretinal neovascularization occurred in three patients. Although systemic medication was given to 17 patients and surgical treatment was performed in 25 eyes, improvement in vision was found in only 6 eyes, but 18 eyes deteriorated markedly (median 5 lines) during follow-up (median 24.5 months). Immunogenetically significant reduced frequencies of HLA-B7 and HLA-DR1 were found; also HLD-DR15(2) was reduced. However, several alleles were increased in MCP, although not significantly: HLA-A31; HLA-B57, HLA-B62; HLA-Cw3, HLA-Cw6; HLA-DR4, HLA-DR7, and HLA-DR8. CONCLUSIONS: MCP is clinically and immunogenetically open to speculation. The present diagnosis and treatment of MCP are insufficient. Further DNA typing methods should clarify, whether HLA-DQ antigens are associated with the disease.


Assuntos
Coriorretinite/imunologia , Genes MHC da Classe II/genética , Genes MHC Classe I/genética , Antígenos HLA-DR/imunologia , Antígenos de Histocompatibilidade Classe I/imunologia , Pan-Uveíte/imunologia , Idoso , Idoso de 80 Anos ou mais , Coriorretinite/complicações , Coriorretinite/genética , Feminino , Seguimentos , Humanos , Imunofenotipagem , Masculino , Pessoa de Meia-Idade , Pan-Uveíte/complicações , Pan-Uveíte/genética , Reação em Cadeia da Polimerase , Estudos Retrospectivos
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