RESUMO
BACKGROUND/OBJECTIVES: Currently, all pregnant women with diabetes are asked to attend screening at least twice during pregnancy, even if no retinopathy is detected in early pregnancy. We hypothesise that for women with no diabetic retinopathy in early pregnancy, the frequency of retinal screening may be safely reduced. SUBJECTS/METHODS: In this retrospective cohort study, data for 4718 pregnant women attending one of three UK Diabetic Eye Screening (DES) Programmes between July 2011 and October 2019 was extracted. The women's UK DES grades at 13 weeks gestation (early pregnancy) and 28 weeks gestation (late pregnancy) were recorded. Descriptive statistics were used to report baseline data. Ordered logistic regression was used to control for covariates, such as age, ethnicity, diabetes duration, and diabetes type. RESULTS: Of the women with grades recorded for both early and late pregnancy, a total of 3085 (65.39%) women had no retinopathy in early pregnancy, and 2306 (74.7%) of these women did not develop any retinopathy by 28 weeks. The number of women without retinopathy in early pregnancy who developed referable retinopathy was 14 (0.45%), none of whom required treatment. Diabetic Retinopathy in early pregnancy remained a significant predictor of DES grade in late pregnancy when covariates of Age, Ethnicity, and Diabetes Type were controlled for (P < 0.001). CONCLUSIONS: In summary, this study has demonstrated that the burden of managing diabetes for pregnant mothers may be safely reduced by limiting the number of diabetic eye screening appointments in women who have no retinal changes in early pregnancy. Screening of women with retinopathy in early pregnancy should continue in line with current UK guidance.
Assuntos
Diabetes Mellitus , Retinopatia Diabética , Feminino , Humanos , Gravidez , Masculino , Retinopatia Diabética/diagnóstico , Gestantes , Estudos Retrospectivos , Programas de Rastreamento , Reino Unido/epidemiologiaRESUMO
Diabetic retinopathy (DR) screening images are heterogeneous and contain undesirable non-retinal, incorrect field and ungradable samples which require curation, a laborious task to perform manually. We developed and validated single and multi-output laterality, retinal presence, retinal field and gradability classification deep learning (DL) models for automated curation. The internal dataset comprised of 7743 images from DR screening (UK) with 1479 external test images (Portugal and Paraguay). Internal vs external multi-output laterality AUROC were right (0.994 vs 0.905), left (0.994 vs 0.911) and unidentifiable (0.996 vs 0.680). Retinal presence AUROC were (1.000 vs 1.000). Retinal field AUROC were macula (0.994 vs 0.955), nasal (0.995 vs 0.962) and other retinal field (0.997 vs 0.944). Gradability AUROC were (0.985 vs 0.918). DL effectively detects laterality, retinal presence, retinal field and gradability of DR screening images with generalisation between centres and populations. DL models could be used for automated image curation within DR screening.
Assuntos
Aprendizado Profundo , Diabetes Mellitus , Retinopatia Diabética , Macula Lutea , Retinopatia Diabética/diagnóstico por imagem , Humanos , Programas de Rastreamento/métodos , Retina/diagnóstico por imagemRESUMO
Cilioretinal artery territory infarction can occur in isolation or in association with other vascular compromise of the retinal circulation. Our patient, an 18-year-old woman with neurofibromatosis type 2, developed a cilioretinal artery territory infarction in the setting of papilledema. Our case, together with one previous report, suggests that cilioretinal artery territory infarction in the context of papilledema, although rare, is a real entity.
Assuntos
Artérias Ciliares/patologia , Olho/irrigação sanguínea , Infarto/etiologia , Neurofibromatose 2/complicações , Papiledema/etiologia , Artéria Retiniana/patologia , Acetazolamida/uso terapêutico , Adolescente , Aspirina/uso terapêutico , Inibidores da Anidrase Carbônica , Quimioterapia Combinada , Feminino , Fibrinolíticos/uso terapêutico , Humanos , Infarto/diagnóstico , Infarto/tratamento farmacológico , Imageamento por Ressonância Magnética , Papiledema/diagnóstico , Papiledema/tratamento farmacológico , Tomografia de Coerência ÓpticaRESUMO
Age-related macular degeneration (AMD) is a leading cause of visual loss in Western populations. Susceptibility is influenced by age, environmental and genetic factors. Known genetic risk loci do not account for all the heritability. We therefore carried out a genome-wide association study of AMD in the UK population with 893 cases of advanced AMD and 2199 controls. This showed an association with the well-established AMD risk loci ARMS2 (age-related maculopathy susceptibility 2)-HTRA1 (HtrA serine peptidase 1) (P =2.7 × 10(-72)), CFH (complement factor H) (P =2.3 × 10(-47)), C2 (complement component 2)-CFB (complement factor B) (P =5.2 × 10(-9)), C3 (complement component 3) (P =2.2 × 10(-3)) and CFI (P =3.6 × 10(-3)) and with more recently reported risk loci at VEGFA (P =1.2 × 10(-3)) and LIPC (hepatic lipase) (P =0.04). Using a replication sample of 1411 advanced AMD cases and 1431 examined controls, we confirmed a novel association between AMD and single-nucleotide polymorphisms on chromosome 6p21.3 at TNXB (tenascin XB)-FKBPL (FK506 binding protein like) [rs12153855/rs9391734; discovery P =4.3 × 10(-7), replication P =3.0 × 10(-4), combined P =1.3 × 10(-9), odds ratio (OR) = 1.4, 95% confidence interval (CI) = 1.3-1.6] and the neighbouring gene NOTCH4 (Notch 4) (rs2071277; discovery P =3.2 × 10(-8), replication P =3.8 × 10(-5), combined P =2.0 × 10(-11), OR = 1.3, 95% CI = 1.2-1.4). These associations remained significant in conditional analyses which included the adjacent C2-CFB locus. TNXB, FKBPL and NOTCH4 are all plausible AMD susceptibility genes, but further research will be needed to identify the causal variants and determine whether any of these genes are involved in the pathogenesis of AMD.
Assuntos
Cromossomos Humanos Par 6 , Estudo de Associação Genômica Ampla , Imunofilinas/genética , Degeneração Macular/genética , Proteínas Proto-Oncogênicas/genética , Receptores Notch/genética , Tenascina/genética , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Feminino , Loci Gênicos , Predisposição Genética para Doença , Haplótipos , Humanos , Modelos Lineares , Modelos Logísticos , Masculino , Razão de Chances , Polimorfismo de Nucleotídeo Único , Análise de Componente Principal , Receptor Notch4 , Análise de Sequência de DNA , Proteínas de Ligação a TacrolimoRESUMO
BACKGROUND: Variation in the complement factor H gene (CFH) is associated with risk of late age-related macular degeneration (AMD). Previous studies have been case-control studies in populations of European ancestry with little differentiation in AMD subtype, and insufficient power to confirm or refute effect modification by smoking. METHODS: To precisely quantify the association of the single nucleotide polymorphism (SNP rs1061170, 'Y402H') with risk of AMD among studies with differing study designs, participant ancestry and AMD grade and to investigate effect modification by smoking, we report two unpublished genetic association studies (n = 2759) combined with data from 24 published studies (26 studies, 26,494 individuals, including 14,174 cases of AMD) of European ancestry, 10 of which provided individual-level data used to test gene-smoking interaction; and 16 published studies from non-European ancestry. RESULTS: In individuals of European ancestry, there was a significant association between Y402H and late-AMD with a per-allele odds ratio (OR) of 2.27 [95% confidence interval (CI) 2.10-2.45; P = 1.1 x 10(-161)]. There was no evidence of effect modification by smoking (P = 0.75). The frequency of Y402H varied by ancestral origin and the association with AMD in non-Europeans was less clear, limited by paucity of studies. CONCLUSION: The Y402H variant confers a 2-fold higher risk of late-AMD per copy in individuals of European descent. This was stable to stratification by study design and AMD classification and not modified by smoking. The lack of association in non-Europeans requires further verification. These findings are of direct relevance for disease prediction. New research is needed to ascertain if differences in circulating levels, expression or activity of factor H protein explain the genetic association.