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1.
Ophthalmologe ; 116(9): 838-849, 2019 Sep.
Artigo em Alemão | MEDLINE | ID: mdl-31388757

RESUMO

PURPOSE: To define unmet needs in ophthalmology which can realistically be addressed in the next years (2019-2025) and to describe potential avenues for research to address these challenges. METHODS: Outcomes of a consensus process within the European Vision Institute (EVI, Brussels) are outlined. Disease areas which are discussed comprise glaucoma, retinal dystrophies, diabetic retinopathy, dry eye disease, corneal diseases, cataract and refractive surgery. RESULTS: Unmet needs in the mentioned disease areas are discussed and realistically achievable research projects outlined. CONCLUSION: Considerable progress can be made in the field of ophthalmology and patient-relevant outcomes in the near future.


Assuntos
Catarata , Glaucoma , Oftalmologia , Consenso , Humanos , Visão Ocular
2.
Ophthalmologe ; 107(3): 216-20, 222, 2010 Mar.
Artigo em Alemão | MEDLINE | ID: mdl-20195614

RESUMO

PURPOSE: Age-related macular degeneration (AMD) and other retinal diseases, such as diabetic retinopathy (DRP) and hereditary retinal dystrophy can not only lead to a loss of visual function but also to a higher psychological and financial burden for the affected persons. Against this background a quantification of personal cost and vision-related quality of life was performed. METHODS: A total of 66 patients (mean age 69 years, SD 13 years) with clinically confirmed diagnoses of AMD, DRP or retinal dystrophy were interviewed regarding costs for medicines, aids and equipment, support in everyday life and social benefits. Vision-related quality of life was recorded using the Impact of Vision Impairment profile (IVI). RESULTS: The average total annual cost was 751 per patient, out of which the largest amount was cost of support in everyday life (506). Costs as well as dependence on other persons or social services increased with decreasing visual acuity (p=0.013). Vision-related quality of life decreased with increasing visual disability especially in the IVI subscales mobility and independence as well as reading and accessing information (p=0.002). CONCLUSIONS: Prevention or delay of visual disability and blindness caused by AMD or other retinal diseases and thus ensuring independence is not only relevant from a medical perspective but also from a health economic perspective. Against the background of a relative shortage of resources, costs should be reduced regardless of whether they are personal or societal costs.


Assuntos
Efeitos Psicossociais da Doença , Doenças Retinianas/economia , Atividades Cotidianas , Idoso , Retinopatia Diabética/economia , Feminino , Alemanha , Gastos em Saúde , Humanos , Degeneração Macular/economia , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Displasia Retiniana/economia , Displasia Retiniana/genética
4.
Br J Ophthalmol ; 93(7): 920-5, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19403518

RESUMO

AIM: To characterise the ocular phenotype of a family segregating the splice site mutation c.2189+1G>T in the tyrosine kinase receptor gene MERTK. METHODS: Five affected children of a consanguineous Moroccan family were investigated by ophthalmic examinations, including fundus photography, autofluorescence (FAF) imaging, optical coherence tomography (OCT), psychophysical and electrophysiological methods. RESULTS: Affected children were between 5 and 19 years of age, allowing an estimation of disease progression. Electroretinography demonstrated loss of scotopic and photopic function in the first decade of life. Younger siblings showed drusen-like deposits with focal relatively increased FAF in the macular area. With increasing age, a yellowish lesion with relatively increased FAF and subsequent macular atrophy developed. Visual acuity deteriorated with age and ranged between 20/50 in the best eye of the youngest affected and 20/400 in the worst eye of the oldest affected sibling. Spectral-domain OCT revealed debris-like material in the subneurosensory space. CONCLUSION: The splice site mutation c.2189+1G>T in MERTK causes rod-cone dystrophy with a distinct macular phenotype. The debris in the subneurosensory space resembles that in the Royal College of Surgeons (RCS) rat being the mertk animal model. Patients might therefore benefit from advances in gene therapy that were previously achieved in the RCS rat.


Assuntos
Mutação/genética , Proteínas Proto-Oncogênicas/genética , Receptores Proteína Tirosina Quinases/genética , Retinose Pigmentar/genética , Adolescente , Adulto , Criança , Pré-Escolar , Consanguinidade , Análise Mutacional de DNA , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Retinose Pigmentar/fisiopatologia , Tomografia de Coerência Óptica , Campos Visuais/fisiologia , Adulto Jovem , c-Mer Tirosina Quinase
5.
Eye (Lond) ; 23(2): 435-41, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18259211

RESUMO

PURPOSE: To describe patients with full-thickness macular holes (FTMHs) and lamellar macular holes (LMHs) in association with type 2 idiopathic macular telangiectasia (type 2 IMT). METHODS: Six patients with either FTMH or LMH and type 2 IMT were evaluated by means of optical coherence tomography (OCT) imaging, funduscopy, and fluorescein angiography. RESULTS: The age of the examined patients ranged from 57 to 70 years (mean 62.5+/-5.2), and best-corrected visual acuity of the affected eyes ranged from 20/50 to 20/200 (mean 20/100). All eyes showed macular abnormalities typical for nonproliferative type 2 IMT except for one eye with a proliferative disease stage. Three patients had an FTMH, one presenting with bilateral FTMH, and three had an LMH on OCT. In all cases of FTMH, the macular holes did not have elevated margins. Surgery was performed in two patients with a FTHM without subsequent functional improvement. CONCLUSIONS: The altered foveal anatomy with progressive atrophic changes within the neurosensory retina in type 2 IMT may predispose to the development of FTMH and LMH. Type 2 IMT should be considered in the differential diagnosis in patients presenting with macular holes. The association between the two may reflect alternative pathogenetic mechanisms in the development of macular holes.


Assuntos
Perfurações Retinianas/etiologia , Telangiectasia/complicações , Idoso , Feminino , Angiofluoresceinografia , Humanos , Masculino , Pessoa de Meia-Idade , Perfurações Retinianas/patologia , Perfurações Retinianas/fisiopatologia , Telangiectasia/diagnóstico , Telangiectasia/fisiopatologia , Tomografia de Coerência Óptica , Acuidade Visual
6.
Eye (Lond) ; 23(3): 567-75, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18344954

RESUMO

PURPOSE: To describe the occurrence of discrete arcs of increased fundus autofluorescence (FAF) associated with various retinal dystrophies and to assess their functional significance by fundus-controlled microperimetry. METHODS: Seven patients, three with pigmented paravenous retinochoroidal atrophy (PPRCA), one with sector retinitis pigmentosa (RP), one with typical RP, and two with macular dystrophy were assessed by retinal imaging including FAF imaging. Serial images were obtained within a review period of 6 and 10 years in a patient with PPRCA and macular dystrophy, respectively. Fundus-controlled microperimetry was performed in eight eyes of five patients to determine light increment sensitivity. RESULTS: A discrete arched line of increased FAF was observed without obvious correlate on fundus biomicroscopy. The orientation of this line differed from ring shape in RP and macular dystrophy, a semi-circle structure in sector RP to crescent shape with tiplike extensions towards branching retinal veins in PPRCA. Longitudinal investigation revealed slight migration of the arc in PPRCA and peripheral extension of the ring diameter in macular dystrophy. Microperimetry revealed that the arc of increased FAF sharply delineated areas of severely impaired retinal sensitivity. CONCLUSIONS: The findings indicate that arcs of increased FAF in PPRCA and other retinal dystrophies demarcate areas of impaired retinal function and may migrate over time. FAF imaging may therefore reveal the exact extent of neurosensory dysfunction that may exceed the dimensions anticipated by conventional examinations.


Assuntos
Degeneração Retiniana/diagnóstico , Adolescente , Adulto , Atrofia/diagnóstico , Atrofia/fisiopatologia , Criança , Corioide/patologia , Eletrorretinografia , Feminino , Fluorescência , Fundo de Olho , Humanos , Degeneração Macular/diagnóstico , Degeneração Macular/fisiopatologia , Masculino , Oftalmoscopia/métodos , Degeneração Retiniana/fisiopatologia , Retinose Pigmentar/diagnóstico , Retinose Pigmentar/fisiopatologia , Acuidade Visual/fisiologia , Testes de Campo Visual/métodos , Adulto Jovem
7.
Ophthalmologe ; 106(3): 242-51, 2009 Mar.
Artigo em Alemão | MEDLINE | ID: mdl-18709375

RESUMO

BACKGROUND: Approximately 35,000 cases of neovascular age-related macular degeneration (AMD) occur annually in Germany. The neovascular form of AMD (NV-AMD) is responsible for severe vision loss associated with the disease in 90% of the cases. This study was conducted to assess the humanistic and economic burden of NV-AMD in the German population. METHODS: A cross-sectional, observational study of subject self-reported functional health, well-being, and disease burden among elderly subjects with (n=83) and without (n=93) NV-AMD in Germany was conducted. Patients participated in telephone surveys involving the National Eye Institute Visual Function Questionnaire (NEI-VFQ-25), the EuroQol (EQ-5D), the Hospital Anxiety and Depression Scale (HADS), and also reported history of falls, fractures, and healthcare resource utilization. Furthermore, the healthcare utilization and unit costs for the NV-AMD patients were calculated. RESULTS: The mean age of NV-AMD patients was 77.2 years and 64% were female. NV-AMD patients reported significantly worse vision-related function and overall well-being than controls (adjusted mean scores: NEI-VFQ-25 overall scale: 51.3 vs 96.3; p<0.0001) and significantly more depression symptoms than controls (HADS depression: 6.2 vs. 2.7; p<0.0001). NV-AMD patients also reported that the need for assistance with daily activities was more than 10 times greater compared to controls (26.5% vs. 2.2%; p<0.0001) and the prevalence of falls was 3 times that of the control group (13.3% vs 4.3%; p=0.031). Annual NV-AMD costs per patient were 9871, 6 times that of elderly patients without NV-AMD ( 1559). Of the NV-AMD costs one-half were direct non-medical-related costs (assistance of ADL or social benefit) and one-third were direct medical costs. CONCLUSIONS: NV-AMD is associated with decreased functional abilities and quality of life, which result in an increase in healthcare resource utilization. Consequently, costs were higher for NV-AMD patients compared to controls. These findings emphasize the need for new NV-AMD treatments that will prevent vision loss and progression to blindness, and lessen the ensuing economic burden. Sponsored by Pfizer Inc. New York, US.


Assuntos
Efeitos Psicossociais da Doença , Degeneração Macular/economia , Degeneração Macular/epidemiologia , Qualidade de Vida , Neovascularização Retiniana/economia , Neovascularização Retiniana/epidemiologia , Adolescente , Adulto , Criança , Feminino , Alemanha/epidemiologia , Humanos , Incidência , Masculino , Adulto Jovem
8.
Ophthalmologe ; 105(8): 722-6, 2008 Aug.
Artigo em Alemão | MEDLINE | ID: mdl-18629507

RESUMO

The use of patient-reported outcomes (PROs) - standardized assessments by the patient of the impact of illness or therapy - has been met with increasing interest over the last years. Evidence generated from PROs is used not only to support claims in the drug regulatory process but is also used in political decision making and activities by the pharmaceutical industry. PROs can reflect the benefits of a treatment very well because the patient's quality of life is a central variable, and its preservation or improvement is certainly the main objective of any therapeutic intervention. The routine use of PROs is still hampered by several methodological problems. However, there are a number of advantages, such as improved interaction between physicians and patients and shared decision making, that may result in increased compliance.


Assuntos
Oftalmopatias/psicologia , Oftalmopatias/terapia , Avaliação de Resultados em Cuidados de Saúde , Satisfação do Paciente , Qualidade de Vida/psicologia , Transtornos da Visão/psicologia , Transtornos da Visão/terapia , Atividades Cotidianas/psicologia , Medicina Baseada em Evidências , Alemanha , Humanos
9.
Br J Ophthalmol ; 92(7): 941-5, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18577646

RESUMO

AIM: To evaluate the effects of intravitreal bevacizumab for non-proliferative type 2 idiopathic macular telangiectasia (type 2 IMT) within a mean follow-up period of 18 months. METHODS: The authors retrospectively studied six eyes of five patients with type 2 IMT who received two doses of intravitreal bevacizumab (1.5 mg) at a 4-week interval, followed by further applications depending on disease activity. Examinations included biomicroscopy, standardised visual acuity (VA) testing, fluorescein angiography, retinal thickness analysis by optical coherence tomography and fundus-controlled microperimetry. RESULTS: Mean follow-up time was 18 months (range 16-21 months). The mean VA at four selected time points (1 month after second treatment, 1 month and 3-4 months after last treatment, and at last visit) increased significantly (by 8.8, 6.3, 7.7 and 8.7 Early Treatment Diabetic Retinopathy Study (ETDRS) letters, respectively; all p

Assuntos
Inibidores da Angiogênese/uso terapêutico , Anticorpos Monoclonais/uso terapêutico , Macula Lutea/irrigação sanguínea , Doenças Retinianas/tratamento farmacológico , Telangiectasia/tratamento farmacológico , Idoso , Anticorpos Monoclonais Humanizados , Bevacizumab , Técnicas de Diagnóstico Oftalmológico , Avaliação de Medicamentos , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Retinianas/fisiopatologia , Vasos Retinianos/efeitos dos fármacos , Estudos Retrospectivos , Telangiectasia/fisiopatologia , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade Visual/efeitos dos fármacos
10.
Br J Ophthalmol ; 92(4): 483-7, 2008 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18369065

RESUMO

PURPOSE: To investigate the efficacy of intravitreal bevacizumab injections for treating choroidal neovascularisation (CNV) secondary to pseudoxanthoma elasticum (PXE). METHODS: Patients with active CNV due to PXE received intravitreal bevacizumab (1.5 mg) and were reviewed at monthly intervals. Further treatments were administered depending on disease activity (visual loss of 5 letters or one line, persistent leakage, persistent macular oedema). Baseline and 1-3 monthly follow-up examinations included best corrected visual acuity (BCVA), biomicroscopy, optical coherence tomography (OCT), fluorescein and indocyanine green angiography, fundus autofluorescence and digital fundus photography. RESULTS: 15 patients (16 eyes) with CNV and PXE were treated. Mean (SD) age was 53 (12.3) years (range 24-72). Mean BCVA at baseline was 20/100 (mean (SD) LogMAR 0.68 (0.51)), improved to 20/63 after the first injection (LogMAR 0.49 (0.45); p = 0.028), and was 20/63 (LogMAR 0.48 (0.48); p = 0.126) at the last follow-up. The mean follow-up time was 8 months. Central retinal thickness decreased significantly from 252 mum at baseline to 214 mum at the last follow-up (p = 0.004) as measured by OCT. Eyes were injected an average of 2.4 times. Categorising patients into two groups (group 1 with only mild changes and group 2 with evident morphological changes in the central macula) revealed that group 1 improved significantly more (LogMAR range 0.41-0.06) than group 2 (LogMAR range 0.80-0.66) (p = 0.014). CONCLUSIONS: The results indicate that intravitreal bevacizumab is effective both functionally and morphologically in treating CNV due to PXE. Best recovery can be achieved in eyes with disease that has not progressed too far and if treatment is initiated at the earliest point possible.


Assuntos
Inibidores da Angiogênese/administração & dosagem , Anticorpos Monoclonais/administração & dosagem , Neovascularização de Coroide/tratamento farmacológico , Pseudoxantoma Elástico/complicações , Adulto , Idoso , Anticorpos Monoclonais Humanizados , Bevacizumab , Neovascularização de Coroide/etiologia , Neovascularização de Coroide/fisiopatologia , Avaliação de Medicamentos , Feminino , Seguimentos , Humanos , Injeções , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Tomografia de Coerência Óptica , Resultado do Tratamento , Acuidade Visual/efeitos dos fármacos , Corpo Vítreo
11.
Ophthalmologe ; 103(6): 463-70, 2006 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-16763862

RESUMO

The efficacy and safety of the therapeutic anti-VEGF concept has already been demonstrated for pegaptanib and ranibizumab. Bevacizumab acts as an antibody against all VEGF-A isoforms and has been developed for oncological indications with intravenous application. Initial reports on intravitreal administration in patients with neovascular age-related macular disease (AMD) have shown beneficial morphological and functional effects. In the meantime, bevacizumab has been used off-label in thousands of patients with AMD. However, data from prospective, controlled, randomized trials on both safety and efficacy are lacking. Herein recent experiences with bevacizumab are summarized and discussed. Furthermore, a web-based platform for online data registration and pooled analyses is presented.


Assuntos
Anticorpos Monoclonais/administração & dosagem , Anticorpos Monoclonais/efeitos adversos , Neovascularização de Coroide/tratamento farmacológico , Degeneração Macular/tratamento farmacológico , Inibidores da Angiogênese/administração & dosagem , Inibidores da Angiogênese/efeitos adversos , Anticorpos Monoclonais Humanizados , Bevacizumab , Neovascularização de Coroide/etiologia , Ensaios Clínicos como Assunto , Aprovação de Drogas , Rotulagem de Medicamentos , Medicina Baseada em Evidências , Humanos , Injeções Intralesionais , Degeneração Macular/complicações , Padrões de Prática Médica , Resultado do Tratamento , Corpo Vítreo
12.
Ophthalmologe ; 103(6): 537-51; quiz 552-3, 2006 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-16763870

RESUMO

Pseudoxanthoma elasticum (PXE) is an inherited disorder that is associated with accumulation of mineralized and fragmented elastic fibers in the skin, vessel walls, and Bruch's membrane. Clinically, patients exhibit characteristic lesions of the skin (soft, ivory-colored papules in a reticular pattern that predominantly affect the neck), the posterior segment of the eye (peau d'orange, angioid streaks, choroidal neovascularizations), and the cardiovascular system (peripheral arterial occlusive disease, coronary occlusion, gastrointestinal bleeding). There is no causal therapy. Recent studies suggest that PXE is inherited almost exclusively as an autosomal recessive trait. Its prevalence has been estimated to be 1:25,000-100,000. The ABCC6 gene on chromosome 16p13.1 is associated with the disease. Mutations within the ABCC6 gene cause reduced or absent transmembraneous transport that leads to accumulation of substrate and calcification of elastic fibers. Although based on clinical features the diagnosis appears readily possible, variability in phenotypic expressions and the low prevalence may be responsible that the disease is underdiagnosed. This review covers current knowledge of PXE and presents therapeutic approaches.


Assuntos
Neovascularização de Coroide/diagnóstico , Neovascularização de Coroide/terapia , Pseudoxantoma Elástico/diagnóstico , Pseudoxantoma Elástico/terapia , Neovascularização de Coroide/epidemiologia , Neovascularização de Coroide/etiologia , Humanos , Guias de Prática Clínica como Assunto , Padrões de Prática Médica , Pseudoxantoma Elástico/complicações , Pseudoxantoma Elástico/epidemiologia
13.
Ophthalmologe ; 103(2): 100-3, 2006 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-16432731

RESUMO

The European Vision Institute EEIG (EVI) creates a new legal entity based on Community law to facilitate and encourage cross-border co-operation in vision research. Its major objectives are to conduct and support research, training, health information dissemination and other programmes with respect to blinding eye diseases, visual disorders, mechanisms of visual function, preservation of sight and the special health problems and requirements of the blind and visually disabled. EVI aims to foster centres in the EU in capacity building for innovative projects, to increase the flexibility, attractiveness and competitiveness of research careers, especially for young researchers. In addition, EVI will serve to co-ordinate activities with patient organisations and to build a pan-European platform for clinical trials.


Assuntos
Academias e Institutos/organização & administração , Pesquisa Biomédica/organização & administração , União Europeia/economia , Financiamento Governamental/organização & administração , Programas Governamentais/organização & administração , Oftalmologia/organização & administração , Ensaios Clínicos como Assunto/tendências , Europa (Continente)
14.
Ophthalmologe ; 103(2): 91-9, 2006 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-16437232

RESUMO

The framework programmes (FP) of the European Commission have substantially contributed to the funding of research within the European countries. The contribution of the funding provided by the EU relative to the funding available on the national level has steadily increased. European ophthalmology and vision research has benefited from this support provided by the EU. This review introduces the European funding policies and the European Research Area (ERA) and provides a list of all projects in ophthalmology and vision research that have been funded within FP1 to FP6. As an example for new instruments within FP6, Integrated Projects, the EVI-GENORET project is introduced. Finally an outlook for FP7 is provided.


Assuntos
Pesquisa Biomédica/economia , Ensaios Clínicos como Assunto/economia , União Europeia/economia , Financiamento Governamental/economia , Programas Governamentais/economia , Oftalmologia/economia , Europa (Continente)
15.
Internist (Berl) ; 47(2): 192-8, 2006 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-16341677

RESUMO

Age-related macular degeneration (AMD) is now the most common cause for blind registration in all developed countries. Epidemiologic data indicate that there are 4.5 millions affected in Germany with constant increase in incidence and prevalence with subsequent considerable health economic implications. Late manifestations of the disease result in the inability to read and to perform daily tasks. Therefore, there is an urgent need for efficacious prophylactic and therapeutic measures to prevent irreversible loss of central vision. Based on a better understanding of the underlying molecular mechanisms new therapeutic approaches have been brought forward and expand previous approaches such as thermal laser surgery or photodynamic therapy. Repeated intravitreal injection of anti-VEGF (vascular endothelial growth factor) agents as well as corticosteroids have a beneficial effect on growth and permeability of neovascular membranes. The risk for progression from early to late stages of AMD can be reduced with certain antioxidative preparations (AREDS medication) in presence of defined funduscopic signs. Early diagnosis is key for all currently available interventions since a beneficial effect can only be achieved in early stages of the disease process.


Assuntos
Corticosteroides/uso terapêutico , Proteínas Angiogênicas/uso terapêutico , Antioxidantes/uso terapêutico , Degeneração Macular/tratamento farmacológico , Padrões de Prática Médica/tendências , Fator A de Crescimento do Endotélio Vascular/uso terapêutico , Humanos , Guias de Prática Clínica como Assunto
16.
Ophthalmologe ; 102(12): 1152-61, 2005 Dec.
Artigo em Alemão | MEDLINE | ID: mdl-16283184

RESUMO

BACKGROUND: Evidence-based medicine requires careful appraisal of published data derived from experimental and clinical studies. Based on classification of biomedical research reports, evidence levels can be determined and recommendations for therapeutic decisions can be made. METHODS: A classification system for clinical studies was developed. It was evaluated in classifying the reports published in Der Ophthalmologe during 2003-2004 (study design: descriptive cross-sectional study, case series). RESULTS: In the 2-year interval, 70 longitudinal and 95 cross-sectional studies were published. The vast majority of the longitudinal studies were interventional cohort studies. Not considering case reports, 73% of the original articles were longitudinal prospective studies, 1% were retrospective (case-control) studies, and 26% were cross-sectional studies. CONCLUSIONS: The study design of all published articles could be classified using the classification system. This classification system proves to be applicable in the context of clinical studies in ophthalmology and may be helpful in the process of critical appraisal of the literature and synthesis of clinical evidence and an evidence-based recommendation.


Assuntos
Pesquisa Biomédica/classificação , Pesquisa Biomédica/estatística & dados numéricos , Ensaios Clínicos como Assunto/normas , Medicina Baseada em Evidências/normas , Oftalmologia/normas , Publicações Periódicas como Assunto/classificação , Publicações Periódicas como Assunto/estatística & dados numéricos , Bibliometria , Ensaios Clínicos como Assunto/estatística & dados numéricos , Medicina Baseada em Evidências/estatística & dados numéricos , Alemanha , Oftalmologia/estatística & dados numéricos , Publicações Periódicas como Assunto/normas , Padrões de Referência
17.
Ophthalmologe ; 102(11): 1036-42, 2005 Nov.
Artigo em Alemão | MEDLINE | ID: mdl-16215754

RESUMO

The discovery of the complement factor H (CFH) polymorphism in age-related macular degeneration (AMD) strongly suggests a causative role of the complement system in the pathogenesis of this disease. The complement system is part of the innate immune system and is closely associated with the cellular response and the adaptive immune system. This article provides an overview of the complement system and, taking the new data into account, of possible immunopathogenetic processes in AMD.


Assuntos
Lâmina Basilar da Corioide/imunologia , Degeneração Macular/imunologia , Modelos Imunológicos , Epitélio Pigmentado Ocular/imunologia , Fator H do Complemento/imunologia , Humanos
18.
Ophthalmologe ; 102(11): 1029-35, 2005 Nov.
Artigo em Alemão | MEDLINE | ID: mdl-16170519

RESUMO

Age-related macular degeneration is a complex genetic disorder. Recent data suggest that the additive genetic risk for late-stage disease is more than two-thirds. Comprehensive genetic studies (candidate gene approaches, linkage and association studies) have been performed in recent years to identity the genetic risk factors at the molecular lavel. Very recently, a significant risk allele, Y402H, has been discovered in the complement factor H (CFH) gene. The relative risk of developing AMD has been estimated between 2.4-4.6 for heterozygotes and 3.3-7.4 for homozygotes. This polymorphism accounts for approximately 20-50% of the overall risk of developing AMD. In this review the results from molecular genetic studies in AMD are summarized, with a special emphasis on the recent data obtained for the CFH gene.


Assuntos
Hidrocarboneto de Aril Hidroxilases/genética , Degeneração Macular/sangue , Degeneração Macular/epidemiologia , Medição de Risco/métodos , Fator H do Complemento/genética , Análise Mutacional de DNA/métodos , França/epidemiologia , Predisposição Genética para Doença/epidemiologia , Testes Genéticos/métodos , Humanos , Incidência , Degeneração Macular/genética , Polimorfismo Genético , Fatores de Risco
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