RESUMO
BACKGROUND: To present a case with Ebstein anomaly, a rare congenital heart disorder, with ophthalmological and neurophthalmological signs and symptoms. To date, retinal venous dilatation and visual snow syndrome have not been previously been published in this anomaly. CASE PRESENTATION: A 10-year-old white girl was diagnosed with Ebstein anomaly. From age 12, she regularly suffered from migraines with auras and photophobia. At age 16 she started to see short-term bouts of white snow, that after a year were present all day. At age 20, she was found to have a decreased retinal arteriovenous ratio. CONCLUSIONS: Retinal arterial tortuosity and venular dilatation are common in congenital heart disease but have not been described in Ebstein anomaly, nor has the visual snow syndrome.
Assuntos
Anomalia de Ebstein , Transtornos de Enxaqueca , Enxaqueca com Aura , Adolescente , Adulto , Criança , Dilatação , Anomalia de Ebstein/complicações , Anomalia de Ebstein/diagnóstico , Feminino , Humanos , Transtornos da Visão , Adulto JovemRESUMO
The first descriptions of ageing macula disorder (AMD), be it under other names, appeared in 1855 and 1868. The earliest accounts of AMD linked the presence of drusen with visual loss. It took a century before these connections between drusen and AMD were generally accepted by medical science and in clinical articles. The first signs of AMD appear in the region of the choriocapillaris, Bruch's membrane and the retinal pigment epithelium. The pathogenesis of drusen and of AMD is still uncertain. This is reflected in the wide variation in nomenclature of both, since the first publications.
Assuntos
Degeneração Macular , Drusas Retinianas , História do Século XIX , História do Século XX , História do Século XXI , Humanos , Degeneração Macular/história , Degeneração Macular/patologia , Drusas Retinianas/história , Drusas Retinianas/patologia , Terminologia como AssuntoRESUMO
PURPOSE: To report on plasma/serum levels of antioxidant vitamin and carotenoids in older adults resident in multiple countries in Europe and examine relationships with potential modifiers. METHODS: Population-based cross-sectional European Eye Study in 7 centres from northern to southern Europe. In total, 4,133 participants aged 65 years or over, collected by random sampling, were recruited. Questionnaires relating to diet, lifestyle and medical history were administered. Non-fasting blood samples were analysed in a single laboratory for vitamins A, C and E and a panel of carotenoids. Associations were analysed by bootstrapped multivariable regression analysis. RESULTS: Centre and season influenced the serum and plasma concentrations of all antioxidant vitamins and carotenoids. Gender, BMI, smoking, age, education, alcohol consumption and supplement use were also significantly associated with some, but not all, of the antioxidant vitamins and carotenoids examined. The proportion of variance explained ranged from 4.8 % for retinol to 25.2 % for zeaxanthin. CONCLUSIONS: In older people, antioxidant vitamin and carotenoid status varies by centre and season, but is also associated with other behavioural and lifestyle variables. Studies aiming to demonstrate an association between antioxidant vitamins and carotenoid status and chronic disease risk should consider these potential confounders.
Assuntos
Ácido Ascórbico/sangue , Vitamina A/sangue , Vitamina E/sangue , Idoso , Consumo de Bebidas Alcoólicas , Antioxidantes/metabolismo , Carotenoides/sangue , Estudos Transversais , Suplementos Nutricionais , Europa (Continente) , Feminino , Humanos , Estilo de Vida , Masculino , Análise Multivariada , Análise de Regressão , Vitaminas/sangue , População BrancaRESUMO
BACKGROUND: Retinal vessels provide a unique opportunity to study both systemic and cerebrovascular disease. Smaller retinal arteriolar calibers are strongly related to hypertension, whereas larger retinal venular calibers are more related to inflammation, cerebral hypoperfusion, and cerebrovascular disease. Whether retinal vessel calibers are related to dementia remains unclear. METHODS: We investigated whether retinal arteriolar and venular calibers are associated with risk of dementia, and its subtypes Alzheimer disease (AD) and vascular dementia, in the prospective population-based Rotterdam Study. Digitized retinal images were available in 5,553 participants aged 55 years or over and dementia-free at baseline (1990-1993). Participants were re-examined in 1993-1994, 1997-1999, and 2002-2004 and were continuously monitored for development of dementia. RESULTS: During a mean follow-up of 11.6 years, 655 participants developed dementia. AD was diagnosed in 519 and vascular dementia in 73 participants. Larger venular calibers were associated with an increased risk of dementia, in particular vascular dementia (age- and sex-adjusted hazard ratio per SD increase: 1.31; 95% confidence interval 1.06-1.64), but not AD. The association remained significant after adjustment for stroke and cardiovascular risk factors. Smaller arteriolar calibers were also associated with an increased risk of vascular dementia, yet only when adjusted for venular calibers. CONCLUSIONS: Retinal venular widening is associated with an increased risk of vascular dementia. Our findings are in line with previous observations in stroke and cerebral small-vessel disease and suggest that the association between larger retinal venular calibers and dementia may reflect cerebral hypoperfusion and subsequent ischemia.
Assuntos
Doença de Alzheimer/epidemiologia , Doença de Alzheimer/patologia , Demência Vascular/epidemiologia , Demência Vascular/patologia , Vigilância da População , Vasos Retinianos/patologia , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Países Baixos/epidemiologia , Vigilância da População/métodos , Estudos Prospectivos , Fatores de RiscoRESUMO
OBJECTIVE: To examine the association between self-reported diabetes history and early or late age-related macular degeneration (AMD) in the European population. METHODS: Participants aged 65 years and over in the cross-sectional population-based EUREYE study underwent an eye examination including digital retinal photography. The images were graded at a single centre. A structured questionnaire was administered by trained field workers for putative risk factors for AMD including history of diabetes mellitus. Logistic regression models were used to examine the association between diabetes and stages of AMD, taking account of potential demographic, behavioural, dietary and medical (history of cardiovascular disease) confounders. MAIN OUTCOME MEASURES: Photographic images were graded according to the modified International Classification System for AMD and stratified into five exclusive stages from no signs of AMD (AMD stage 0), early AMD (Stages 1-3) and late AMD (Stage 4). Late AMD was subdivided in neovascular AMD (NV-AMD) or geographic atrophy (GA). RESULTS: Data on diabetes history and potential confounders were available in 2117 control subjects without AMD, 2182 with early AMD, 49 with GA and 101 with NV-AMD. Of all participants, 13.1% reported a history of diabetes. After adjusting for potential confounders, subjects with neovascular AMD compared with controls had increased odds for diabetes (odds ratio 1.81; 95% confidence interval, 1.10 to 2.98, p = 0.02). Subjects with AMD grades 1 to 3 or GA had no increased odds for diabetes compared with those without AMD. CONCLUSIONS: In the EUREYE study, after multiple adjustments, positive association of diabetes mellitus with neovascular AMD was found. The hypothesis that diabetes is associated with neovascular AMD but not with geographic atrophy may suggest a different pathogenesis of the two advanced forms of the disease and needs to be further evaluated.
Assuntos
Retinopatia Diabética/epidemiologia , Degeneração Macular/epidemiologia , Idoso , Métodos Epidemiológicos , Europa (Continente)/epidemiologia , Feminino , Humanos , Estilo de Vida , MasculinoRESUMO
We report the long-term outcome of a modified second-generation cementing technique for fixation of the acetabular component of total hip replacement. An earlier report has shown the superiority of this technique assessed by improved survival compared with first-generation cementing. The acetabular preparation involved reaming only to the subchondral plate, followed by impaction of the bone in the anchorage holes. Between 1978 and 1993, 287 total hip replacements were undertaken in 244 patients with a mean age of 65.3 years (21 to 90) using a hemispherical Weber acetabular component with this modified technique for cementing and a cemented femoral component. The survival with acetabular revision for aseptic loosening as the endpoint was 99.1% (95% confidence interval 97.9 to 100 after ten years and 85.5% (95% confidence interval 74.7 to 96.2) at 20 years. Apart from contributing to a long-lasting fixation of the component, this technique also preserved bone, facilitating revision surgery when necessary.
Assuntos
Acetábulo/cirurgia , Artroplastia de Quadril/métodos , Cimentos Ósseos/uso terapêutico , Cimentação/métodos , Prótese de Quadril/efeitos adversos , Acetábulo/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Falha de Prótese , Infecções Relacionadas à Prótese/etiologia , Radiografia , Amplitude de Movimento Articular/fisiologia , Resultado do Tratamento , Adulto JovemRESUMO
AIM: To study the additional yield of a periodic screening programme for open-angle glaucoma (OAG) by comparing, in a population-based setting, incident OAG (iOAG) cases detected in regular ophthalmic care with those detected during screening. METHODS: Participants aged 55 and over from the population-based Rotterdam Study underwent the same ophthalmic examination at baseline (1991-3) and follow-up (1997-9), including visual field testing and simultaneous stereo optic disc photography. Of 3842 participants, 87 (2.3%) developed iOAG during a mean follow-up time of 6.5 years. Of these 87 iOAG cases, 78 (90%) were included in this study. RESULTS: Of the 78 iOAG cases detected at follow-up, 23 (29%) had already been detected before during regular ophthalmic care. The remaining 55 (71%) undetected iOAG cases more often showed glaucomatous optic neuropathy without glaucomatous visual field loss (29 of 55 (53%)) as compared with the detected cases (four of 23 (17%); p = 0.009). Of the undetected iOAG cases, only four had developed significant visual field loss in their better eye. CONCLUSION: The additional yield of a periodic OAG screening programme is lower than expected from published prevalence data. In the discussion, the authors estimate that-in a white population with a low prevalence of pseudoexfoliation-about one in 1000 screened persons could be saved from bilateral end-stage OAG.
Assuntos
Glaucoma de Ângulo Aberto/diagnóstico , Doenças do Nervo Óptico/diagnóstico , Idoso , Protocolos Clínicos , Estudos de Coortes , Diagnóstico Precoce , Feminino , Glaucoma de Ângulo Aberto/epidemiologia , Humanos , Pressão Intraocular/fisiologia , Masculino , Programas de Rastreamento/estatística & dados numéricos , Pessoa de Meia-Idade , Países Baixos/epidemiologia , Oftalmoscopia/métodos , Doenças do Nervo Óptico/epidemiologia , Estudos Prospectivos , Fatores de Risco , Pessoas com Deficiência VisualRESUMO
OBJECTIVE: To examine the association between cigarette smoking and age-related maculopathy (ARM) including age-related macular degeneration (AMD) in the European population. DESIGN: Cross-sectional study. PARTICIPANTS: Four thousand seven hundred fifty randomly sampled > or =65-year-olds from 7 study centers across Europe (Norway, Estonia, United Kingdom, France, Italy, Greece, and Spain). METHODS: Participants underwent an eye examination and digital retinal photography. The images were graded at a single center. Smoking history was ascertained by a structured questionnaire administered by trained fieldworkers. Multinomial and binary logistic regressions were used to examine the association between smoking history and ARM grade and type of AMD, taking account of potential confounders and the multicenter study design. MAIN OUTCOME MEASURES: Photographic images were graded according to the International Classification System for ARM and stratified using the Rotterdam staging system into 5 exclusive stages (ARM 0-3 and ARM 4, also known as AMD). Age-related macular degeneration also was classified as neovascular AMD or geographic atrophy (GA). RESULTS: One hundred fifty-eight cases were categorized as AMD (109 neovascular AMD and 49 GA); 2260 had no signs of ARM (ARM 0). Current smokers had increased odds of neovascular AMD (odds ratio [OR], 2.6; 95% confidence interval [CI], 1.4-4.8) or GA (OR, 4.8; 95% CI, 2.1-11.1), whereas for ex-smokers the odds were around 1.7. Compared with people with unilateral AMD, those with bilateral AMD were more likely to have a history of heavy smoking in the previous 25 years (OR, 5.1; 95% CI, 1.3-20.0). The attributable fraction for AMD due to smoking was 27% (95% CI, 19%-33%). There was no consistent association with ARM grades 1 to 3 and smoking. CONCLUSIONS: These findings highlight the need for increasing public awareness of the risks associated with smoking and the benefit of quitting smoking. Patients with unilateral disease who are current smokers should be advised of the risk of second-eye disease.
Assuntos
Degeneração Macular/etiologia , Fumar/efeitos adversos , Idoso , Neovascularização de Coroide/diagnóstico , Neovascularização de Coroide/etiologia , Estudos Transversais , Meio Ambiente , Europa (Continente) , Feminino , Humanos , Estilo de Vida , Degeneração Macular/diagnóstico , Masculino , Razão de Chances , Fotografação , Fatores de Risco , Abandono do Hábito de Fumar , Inquéritos e Questionários , Poluição por Fumaça de Tabaco/efeitos adversosAssuntos
DNA Mitocondrial/genética , Mutação/genética , Músculos Oculomotores/patologia , Atrofia Óptica Hereditária de Leber/genética , Análise Mutacional de DNA/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Atrofia Óptica Hereditária de Leber/diagnóstico , Atrofia Óptica Hereditária de Leber/fisiopatologiaRESUMO
BACKGROUND: Retinal vessels may provide information on cerebral vascular pathology, because they share many features with cerebral vessels. A smaller ratio of the retinal arteriolar-to-venular diameters reportedly predicts the risk of stroke. It is unclear if this is due to arteriolar narrowing or venular dilation. OBJECTIVE: To investigate whether smaller arteriolar or larger venular diameters are related to the risk of stroke and cerebral infarction. METHODS: This study was based on the prospective population-based Rotterdam Study and included 5,540 participants of 55 years or over, who had gradable fundus transparencies and were free of stroke at baseline (1990 to 1993). For each participant, retinal arteriolar and venular diameters were measured on digitized images of one eye. Follow-up for first-ever stroke was complete until January 1, 2002. RESULTS: After a mean follow-up of 8.5 years, 411 participants had a stroke, of whom 259 had cerebral infarction. Larger venular diameters were associated with an increased risk of stroke (hazard ratio [HR] adjusted for age and sex per SD increase: 1.12 [95% CI: 1.02 to 1.24]) and cerebral infarction (HR: 1.15 [95% CI: 1.02 to 1.29]). Smaller arteriolar diameters were neither related to the risk of stroke (HR per SD decrease: 1.02 [95% CI: 0.93 to 1.13]) nor to the risk of cerebral infarction (HR: 1.02 [95% CI: 0.90 to 1.15]). After additional adjustment for other cardiovascular risk factors, the results did not change. CONCLUSIONS: Larger retinal venular diameters are associated with an increased risk of stroke and cerebral infarction. The role of venules in cerebrovascular disease warrants further exploration.
Assuntos
Vasos Retinianos/anatomia & histologia , Acidente Vascular Cerebral/epidemiologia , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Antropometria , Arteríolas/anatomia & histologia , Índice de Massa Corporal , Proteína C-Reativa/análise , Estenose das Carótidas/diagnóstico por imagem , Estenose das Carótidas/epidemiologia , Fatores de Confusão Epidemiológicos , Diabetes Mellitus/epidemiologia , Feminino , Humanos , Hipertensão/epidemiologia , Masculino , Pessoa de Meia-Idade , Países Baixos/epidemiologia , Oftalmoscopia , Valor Preditivo dos Testes , Modelos de Riscos Proporcionais , Estudos Prospectivos , Risco , Estudos de Amostragem , Fumar/epidemiologia , Ultrassonografia , Vênulas/anatomia & histologiaRESUMO
UNLABELLED: The literature contains contradictory evidence as to whether previous proximal femoral osteotomy impairs the long-term outcomes of total hip arthroplasty. We therefore examined whether our patients with cemented total hip arthroplasties after previous osteotomies had inferior outcomes. We also investigated whether the intraoperative complication rate and the clinical and radiologic outcomes were altered by a previous osteotomy. We compared a group of 121 consecutive patients who had total hip arthroplasties (1974-1993) after osteotomies with a group of 290 consecutive patients who had total hip arthroplasties (1974-1987) without previous surgery. There was no difference in survival rate. There was a 10-year survival rate of 90% compared with 92% for the control group. The 15-year survival rates were 83% and 81%, respectively. There were no differences in radiologic and clinical followups. Intraoperative perforation of the femur occurred more often in patients with a total hip arthroplasty after an osteotomy. Our data suggest the long-term outcome of a cemented total hip arthroplasty is not impaired by a previous well-performed osteotomy. LEVEL OF EVIDENCE: Therapeutic study, Level III (retrospective comparative study). See the Guidelines for Authors for a complete description of levels of evidence.
Assuntos
Artroplastia de Quadril , Cimentação , Cabeça do Fêmur/cirurgia , Osteoartrite do Joelho/cirurgia , Osteotomia , Adulto , Artroplastia de Quadril/efeitos adversos , Seguimentos , Humanos , Osteoartrite do Joelho/diagnóstico por imagem , Osteoartrite do Joelho/mortalidade , Radiografia , Reoperação , Estudos Retrospectivos , Taxa de Sobrevida , Fatores de Tempo , Resultado do TratamentoRESUMO
We evaluated the long-term results of 116 total hip replacements with a superolateral shelfplasty in 102 patients with osteoarthritis secondary to developmental dysplasia of the hip. After a mean follow-up of 19.5 years (11.5 to 26.0), 14 acetabular components (12%) had been revised. The cumulative survival at 20 years was 78%, with revision for loosening of the acetabular component as the end-point. All grafts were well integrated and showed remodelling. In six grafts some resorption had occurred under the heads of the screws where the graft was not supporting the socket. Apart from these 14 revisions, seven acetabular components had possible radiological signs of loosening at a mean follow-up of 14.5 years, one had signs of probable loosening, and five had signs of definite loosening. These results indicate that this technique of bone grafting for acetabular reconstruction in hip dysplasia is a durable solution for cemented acetabular components.
Assuntos
Artroplastia de Quadril/métodos , Doenças do Desenvolvimento Ósseo/cirurgia , Cabeça do Fêmur/transplante , Osteoartrite do Quadril/cirurgia , Acetábulo/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças do Desenvolvimento Ósseo/complicações , Doenças do Desenvolvimento Ósseo/fisiopatologia , Remodelação Óssea/fisiologia , Feminino , Seguimentos , Articulação do Quadril/diagnóstico por imagem , Articulação do Quadril/cirurgia , Humanos , Complicações Intraoperatórias , Masculino , Pessoa de Meia-Idade , Osteoartrite do Quadril/etiologia , Osteoartrite do Quadril/fisiopatologia , Complicações Pós-Operatórias , Radiografia , Reoperação , Análise de Sobrevida , Resultado do TratamentoRESUMO
Previously, we described a large Dutch family with hereditary vascular retinopathy (HVR), Raynaud's phenomenon and migraine. A locus for HVR was mapped on chromosome 3p21.1-p21.3, but the gene has not yet been identified. The fact that all three disorders share a vascular aetiology prompted us to study whether the HVR haplotype also contributed to Raynaud's phenomenon and migraine in this family. Whereas the parent-child transmission disequilibrium test (TDT) did not reach significance, the sibling TDT revealed that the HVR haplotype harbours a susceptibility factor for Raynaud's phenomenon and migraine. Identification of the HVR gene will improve the understanding of the pathophysiology of HVR, Raynaud's phenomenon and migraine.
Assuntos
Transtornos de Enxaqueca/epidemiologia , Transtornos de Enxaqueca/genética , Doença de Raynaud/epidemiologia , Doença de Raynaud/genética , Doenças Retinianas/epidemiologia , Doenças Retinianas/genética , Medição de Risco/métodos , Adolescente , Adulto , Criança , Comorbidade , Feminino , Genes Dominantes , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Haplótipos , Humanos , Masculino , Países Baixos/epidemiologia , Fenótipo , Prevalência , Locos de Características Quantitativas/genética , Característica Quantitativa Herdável , Análise de Sequência de DNARESUMO
OBJECTIVE: To identify mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. METHODS: Mutation analysis was carried out in a group of 35 unrelated patients with juvenile autosomal recessive retinitis pigmentosa (ARRP), Leber's congenital amaurosis (LCA), or juvenile isolated retinitis pigmentosa (IRP), by denaturing high performance liquid chromatography followed by direct sequencing. RESULTS: All three groups of patients showed typical combinations of eye signs associated with retinitis pigmentosa: pale optic discs, narrow arterioles, pigmentary changes, and nystagmus. Mutations were found in 34% of PATIENTS: in CRB1 (11%), GUCY2D (11%), RPE65 (6%), and RPGRIP1 (6%). Nine mutations are reported, including a new combination of two mutations in CRB1, and new mutations in GUCY2D and RPGRIP1. The new GUCY2D mutation (c.3283delC, p.Pro1069ArgfsX37) is the first pathological sequence change reported in the intracellular C-terminal domain of GUCY2D, and did not lead to the commonly associated LCA, but to a juvenile retinitis pigmentosa phenotype. The polymorphic nature of three previously described (pathological) sequence changes in AIPL1, CRB1, and RPGRIP1 was established. Seven new polymorphic changes, useful for further association studies, were found. CONCLUSIONS: New and previously described sequence changes were detected in retinitis pigmentosa in CRB1, GUCY2D, and RPGRIP1; and in LCA patients in CRB1, GUCY2D, and RPE65. These data, combined with previous reports, suggest that LCA and juvenile ARRP are closely related and belong to a continuous spectrum of juvenile retinitis pigmentosa.
Assuntos
Proteínas de Transporte/genética , Análise Mutacional de DNA , Proteínas do Olho/genética , Guanilato Ciclase/genética , Proteínas de Membrana/genética , Mutação , Proteínas do Tecido Nervoso/genética , Proteínas/genética , Receptores de Superfície Celular/genética , Retinose Pigmentar/genética , Proteínas Adaptadoras de Transdução de Sinal , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Clonagem Molecular , Proteínas do Citoesqueleto , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Fenótipo , Polimorfismo Genético , cis-trans-IsomerasesRESUMO
Pseudoxanthoma elasticum (PXE) is a hereditary disease of the connective tissue characterized by progressive dystrophic mineralization of elastic fibres. PXE patients have skin lesions, may experience loss of visual acuity and cardiovascular complications. The inheritance pattern of PXE is almost always autosomal recessive. In less than 2% of the families, PXE may be inherited in an autosomal dominant fashion. PXE is caused by mutations in the ABCC6 (MRP6) gene. The R1141X mutation is by far the most common mutation; it has been identified in 19 patients, or 30% of all PXE-patients in the Netherlands. The molecular pathology of PXE is complicated by yet unknown factors causing a variable clinical expression of the disease. In 80% of the 110 PXE patients the authors studied, at least one ABCC6 mutation was found. Molecular diagnostics of PXE is especially useful to confirm the clinical diagnosis.
Assuntos
Proteínas Associadas à Resistência a Múltiplos Medicamentos/genética , Pseudoxantoma Elástico/genética , Genes Dominantes/genética , Genes Recessivos/genética , Humanos , Mutação , Linhagem , Pseudoxantoma Elástico/patologiaRESUMO
PURPOSE: The aims of the EUREYE study are to evaluate the prevalence of age-related maculopathy (ARM), including macular degeneration (AMD), in elderly European populations, to investigate risk factors for ARM and AMD, especially solar radiation and diet, and to measure the impact of these conditions on vision-related quality of life. METHODS: A population-based cross-sectional study with retrospective and current exposure measurements. Risk factor assessment is via questionnaires (for lifestyle factors such as smoking and alcohol, dietary risk factors, outdoor exposure) and blood analysis. Participants are people aged 65 and over. The study is carried out in 7 centres with locations spanning north to south Europe. The main outcome measure is grading of fundus photographs (for stage and type of ARM, using the International ARM Epidemiological Study Group grading system).
Assuntos
Degeneração Macular/epidemiologia , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Dieta , Meio Ambiente , Exposição Ambiental , Métodos Epidemiológicos , Europa (Continente)/epidemiologia , Feminino , Humanos , Masculino , Vigilância da População , Prevalência , Qualidade de Vida , Estudos Retrospectivos , Fatores de Risco , Luz Solar , Inquéritos e Questionários , Transtornos da Visão/epidemiologiaRESUMO
Primary open-angle glaucoma (POAG) is a group of multifactorial diseases that affects 1.5% of the population. If untreated, the disease leads to irreversible damage to the visual system. The clinical features of POAG are excavation of the optic disc and visual field defects, probably due to degeneration of retinal ganglion cells. Important risk factors for POAG are older age, elevated intraocular pressure, the presence of POAG in relatives, and still largely unknown molecular genetic factors. The clinical, genetic and pathological heterogeneity most likely reflects the complex heterogeneous situation at the molecular level. The three genes known to be involved in POAG (MYOC, CYP1B1 and OPTN) account for up to 18% of the POAG cases. These findings result in new possibilities for the presymptomatic molecular diagnosis of POAG.