At a glance

IF 3.7 2区医学 Q1 OPHTHALMOLOGY

British Journal of Ophthalmology Pub Date : 2025-08-01 DOI:10.1136/bjo-2025-328171

Frank Larkin

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引用次数: 0

Abstract

Genetic landscape of inherited retinal dystrophies in a Welsh tertiary referral centre ( see page 845 ) An overview of 403 patients with inherited retinal dystrophies (IRD), in 41% of whom a genetic cause has been identified and 90% of whom live within 50 km of a tertiary referral centre in Cardiff, UK. Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants ( see page 852 ) Finnish patients with inherited retinal dystrophies (IRDs) demonstrated genetic and phenotypic heterogeneity. Unique IRD-associated gene variants were enriched in the population, resulting in an over-representation of retinal subphenotypes. The total prevalence of IRDs was 69.8/100,000. Associations between a healthy lifestyle score and retinal neurovascular health ( see page 858 ) A higher healthy lifestyle score was associated with better retinal neurovascular health and reduced major retinal diseases in a dose-response manner. Evaluating lipid-lowering drug targets for full-course diabetic retinopathy ( see page 868 ) This study does not support a causal relationship between dyslipidaemia and full-course diabetes retinopathy (DR). However in drug target Mendelan randomisation analysis, peroxisome proliferator-activated receptor gamma (PPARG) enhancement …

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一目了然

威尔士三级转诊中心遗传性视网膜营养不良的遗传景观（见第845页）对403名遗传性视网膜营养不良患者的概述，其中41%的患者已确定遗传原因，其中90%的患者居住在英国卡迪夫三级转诊中心50公里范围内。芬兰人群中遗传性视网膜疾病的特征和流行表明，人群特异性表型和致病变异丰富（见852页）。芬兰遗传性视网膜营养不良症（IRDs）患者表现出遗传和表型异质性。独特的ird相关基因变异在人群中富集，导致视网膜亚表型的过度代表。入境者的总患病率为69.8万。健康生活方式评分与视网膜神经血管健康之间的关系（见第858页）较高的健康生活方式评分与更好的视网膜神经血管健康和减少主要视网膜疾病以剂量反应方式相关。评估全程糖尿病视网膜病变的降脂药物靶点（见第868页）本研究不支持血脂异常与全程糖尿病视网膜病变（DR）之间的因果关系。然而，在药物靶门迪兰随机化分析中，过氧化物酶体增殖物激活受体（PPARG）增强…

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来源期刊

British Journal of Ophthalmology 医学-眼科学

CiteScore

10.30

自引率

2.40%

发文量

213

审稿时长

3-6 weeks

期刊介绍： The British Journal of Ophthalmology (BJO) is an international peer-reviewed journal for ophthalmologists and visual science specialists. BJO publishes clinical investigations, clinical observations, and clinically relevant laboratory investigations related to ophthalmology. It also provides major reviews and also publishes manuscripts covering regional issues in a global context.