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1.
Hum Immunol ; 64(10): 965-72, 2003 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-14522094

RESUMO

The purpose of this study was the investigation of human leukocyte antigen (HLA) genes in Mexicans with classical Pars Planitis (CPP). Seventy-nine unrelated patients and 204 healthy controls were studied. HLA-A, -B, and -C typing was done on T cells isolated with immunomagnetic beads. HLA-DRB1, -DQA1, and -DQB1 loci were typed by polymerase chain reaction-sequence-specific oligonucleotide probes. The significance and strength of HLA associations were assessed. Stratification analyses were performed to analyze correlations between HLA alleles and clinical manifestations or gender. The mean age of CPP patients was 10 years old. The disease was recurrent (21.3%); 58% were males and 89.6% were bilaterally affected. A 3-year follow-up demonstrated no other associated disease. DRB1*0802 was significantly increased (odds ratio [OR] = 2.8, etiologic fraction [EF] = 18.96%). In females, HLA-B51 (OR = 9.8) was associated with nonsymmetrical onset and HLA-Cw1 (OR = 4.7) with symmetrical onset; DRB1*0802 was increased in males (OR = 3.9, p =5.0 E-05, EF = 38.3%) and contributed to their symmetrical onset (OR = 4.6, p =4.6 E-06, EF = 29.4%). Corneal peripheral endotheliopathy correlated with DQB1*0602 in females (OR = 17, EF = 47.1%). A susceptibility allele of Amerindian ancestry is responsible for juvenile CPP in Mexicans; HLA-B locus contributes to severity in females and DRB1*0802 in males. CPP should be classified as an heterogeneous illness taking into account ethnicity, and clinical and genetic characteristics.


Assuntos
Predisposição Genética para Doença , Antígenos de Histocompatibilidade Classe II/genética , Pars Planite/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Antígenos de Histocompatibilidade Classe I/genética , Humanos , Masculino , México , Pars Planite/fisiopatologia
2.
Eur J Ophthalmol ; 13(5): 433-8, 2003 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12841565

RESUMO

PURPOSE: Human leucocyte antigen (HLA) class II influences the immunological susceptibility for a variety of diseases including many types of non-infectious intraocular inflammation. Previous studies on North American patients with pars planitis, a subtype of intermediate uveitis, reported an increased prevalence of HLA DR15 in this population. In contrast, two European studies could not find an association between HLA DR2 or its allelic subtype DR15 and various forms of intermediate uveitis. We therefore investigated the genotype frequency of HLA DR alleles in a Scottish population of patients with typical pars planitis. METHODS: Twenty patients with pars planitis were identified from the uveitis database of Grampian University Hospitals. Only patients with bilateral vitritis and snowbanks in at least one eye in the absence of systemic disease were included in the study. Fifteen patients and 34 healthy controls underwent HLA DR genotyping for all DRB genes using PCR sequence specific primers. RESULTS: HLA DR15 was found in 13% of patients with pars planitis and in 24% of controls. There was no statistically significant difference between these two groups. Furthermore, the frequencies of HLA DR 1, 3-14, and 16 did not differ significantly between patients and controls. CONCLUSIONS: There appears to be no association between the occurrence of pars planitis and the HLA DR15 or other known HLA DR genotypes in Scottish patients. However, the small sample size limits the power of this study.


Assuntos
Antígenos HLA-DR/genética , Pars Planite/genética , Polimorfismo Genético/genética , Alelos , Genes MHC da Classe II , Genótipo , Humanos , Pars Planite/etnologia , Reação em Cadeia da Polimerase , Escócia/epidemiologia
3.
Am J Ophthalmol ; 131(5): 657-9, 2001 May.
Artigo em Inglês | MEDLINE | ID: mdl-11336946

RESUMO

PURPOSE: To investigate the association of HLA class II alleles with pars planitis. METHODS: Blood samples were obtained from 28 patients with pars planitis seen in the Department of Ophthalmology and Visual Sciences and the Barnes Retina Institute at Washington University, St. Louis, Missouri. RESULTS: HLA-DR15, one of the allelic subtypes of HLA-DR2, was present in 18 (64.3%) of 28 patients vs. 10 (20%) of 50 controls (OR = 7.20, CI = 2.28--23.20, P =.0001). HLA-DR51 (HLA-DRB 5) was present in 16 (57.1%) of 28 patients vs. 6 (12%) of 50 controls (OR = 9.78, CI = 2.79--36.42, P =.0001). HLA-DR17 was present in eight (28.6%) of 28 patients vs. one (2%) of 50 controls (OR = 19.60, CI = 2.29--886.7, P =.0001). CONCLUSION: Pars planitis is associated with an increased frequency of the HLA-DR2 suballele, -DR15, HLA-DR51, and HLA-DR17. These results suggest an immunogenic predisposition exists to pars planitis.


Assuntos
Genes MHC da Classe II , Antígenos HLA-DR/genética , Pars Planite/genética , Adolescente , Adulto , Alelos , DNA/análise , Feminino , Frequência do Gene , Genes MHC da Classe II/genética , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Reação em Cadeia da Polimerase , Estudos Retrospectivos
4.
Ophthalmology ; 106(3): 594-9, 1999 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-10080220

RESUMO

OBJECTIVE: To describe a cohort of patients with pars planitis followed at a single tertiary care institution, determine the frequency of multiple sclerosis and/or optic neuritis in patients with this disorder, and calculate gene frequencies of human leukocyte antigen (HLA) class II alleles in these patients. DESIGN: Fifty-three patients with the diagnosis of pars planitis underwent clinical record review or telephone interview for follow-up or both; 32 of these underwent phlebotomy for analysis of HLA class II alleles. MAIN OUTCOME MEASURES: Outcomes included visual acuity, occurrence of multiple sclerosis and/or optic neuritis, and HLA class II gene frequencies. RESULTS: With a mean follow-up of 2 years, approximately 90% of patients maintained a visual acuity better than 20/40 in at least one eye. The most frequently encountered ophthalmic complications included cystoid macular edema, cataract, and epiretinal membrane formation. Of 37 patients with pars planitis who had medical or neurologic follow-up evaluations, 6 (16.2%) developed multiple sclerosis. The HLA-DR15 allele, coding for one of the two HLA-DR2 subtypes, was associated with pars planitis (odds ratio = 2.86, 95% confidence interval = 1.42-5.78, P = 0.004). CONCLUSIONS: A common immunogenetic predisposition to multiple sclerosis and pars planitis may be associated with the HLA-DR15 allele. This association may represent genetic linkage to the HLA-DR locus or a role for the HLA-DR15 gene product in the pathogenesis of both of these diseases.


Assuntos
Frequência do Gene , Antígenos HLA-DR/genética , Pars Planite/diagnóstico , Pars Planite/genética , Adolescente , Adulto , Alelos , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Seguimentos , Ligação Genética/genética , Subtipos Sorológicos de HLA-DR , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/diagnóstico , Esclerose Múltipla/genética , Neurite Óptica/diagnóstico , Neurite Óptica/genética , Prognóstico , Acuidade Visual
6.
Ophthalmic Genet ; 16(1): 17-9, 1995 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-7648038

RESUMO

Pars planitis is an intraocular inflammatory disorder which usually affects children or young adults and is characterized by vitreous cells and debris ('snowballs'), exudate, and 'snowbank' formation along the pars plana, variable periphlebitis, and cystoid macular edema. Although no inheritance pattern has been defined, familial cases of pars planitis have been reported. This report describes pars planitis in two sisters, one of whom had evidence of demyelinating disease at presentation. The literature on familial pars planitis is reviewed. To the author's knowledge this is the first case of familial pars planitis as the presenting sign of possible demyelinating disease.


Assuntos
Pars Planite/genética , Administração Oral , Adulto , Seio Cavernoso/patologia , Doenças Desmielinizantes/diagnóstico , Feminino , Humanos , Injeções Intravenosas , Neoplasias Meníngeas/diagnóstico , Meningioma/diagnóstico , Metilprednisolona/administração & dosagem , Metilprednisolona/uso terapêutico , Pars Planite/diagnóstico , Pars Planite/tratamento farmacológico , Prednisolona/administração & dosagem , Prednisolona/uso terapêutico , Acuidade Visual
7.
Int Ophthalmol ; 18(2): 111-3, 1994.
Artigo em Inglês | MEDLINE | ID: mdl-7814201

RESUMO

The familial occurrence of pars planitis is rare. We have found ten cases reported previously. We describe a new case of pars planitis in a family. The affected members included a mother and two of her four children. The family was tested for HLA antigens in order to establish a comparison with others HLA types by different authors. We have not identified any cause for the familial occurrence of this disease. We discuss the role of genetic and ambiental factors.


Assuntos
Pars Planite/genética , Criança , Feminino , Antígenos HLA/análise , Humanos , Masculino , Pars Planite/etiologia , Linhagem
8.
Ophthalmic Paediatr Genet ; 11(4): 305-8, 1990 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-2096359

RESUMO

The authors examined a family in which father and son presented with pars planitis. Both of them and the paternal grandparents were HLA typed; no association between HLA antigens and pars planitis was found. Present and previous data suggest a relation between pars planitis and allergic predisposition.


Assuntos
Pars Planite/genética , Corticosteroides/uso terapêutico , Pré-Escolar , Pai , Doenças Genéticas Inatas , Teste de Histocompatibilidade , Humanos , Masculino , Pars Planite/tratamento farmacológico , Linhagem , Acuidade Visual , Corpo Vítreo/citologia , Corpo Vítreo/efeitos dos fármacos
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