Aim Mutation in the complement factor H (CFH) gene is an important risk factor for age-related macular degeneration (AMD). In this study, we identified the strength of the CFH Y402H gene variant association in a UK AMD cohort and tested the hypothesis that this variant may influence the biological response of choroidal neovascularisation (CNV) following photodynamic therapy (PDT) for CNV. Methods A total of 557 cases with AMD and 551 normal controls were genotyped for the CFH Y402H (1277 C/T) variant using the 5 0 nuclease TaqMan assay for allelic discrimination. The CFH gene association for AMD, for the different CNV subtypes and for patients needing PDT was estimated. Twenty-seven PDT-treated patients were followed up for 15 months with ETDRS-derived vision, clinical examination, and fundus angiography. Individuals with different CFH genotypes were then analysed for any association with visual change following PDT. Results The risk association for AMD with the CFH CC genotype (odd ratio (OR) ¼ 3.62, P c o0.0001) was similar to that reported in other Caucasian cohorts. The magnitude and strength of this association was stronger in AREDS stages 2-4 (ORs ¼ 4.48, 2.69, and 5.17). ORs for the risk of predominantly classic CNV were significantly raised for both the CC (OR ¼ 17.87, Po0.0001) and CT (OR ¼ 9.06, P ¼ 0.0002) genotypes. The number of patients carrying the high-risk C allele was 70.4% in those requiring PDT as compared to 52.3% in the non-PDT group (OR ¼ 2.16, P ¼ 0.011), and presence of the CC genotype significantly increased the risk of PDT (OR ¼ 5.48, P ¼ 0.015). The degree of visual loss following PDT was significantly higher in the CFH CC genotype group (P ¼ 0.038); 50% of CC cases (n ¼ 13) and 45% of the CT cases (n ¼ 12) lost 15 or more ETDRS letters at final follow-up. Conclusion In this UK cohort of AMD patients, the CFH Y402H variant was significantly enriched in patients with predominantly classic CNV. Patients homozygous for the CFH Y402H genotype seem to have worse visual acuity after PDT.
Significant positive and negative associations exist between HLA alleles and AMD. HLA polymorphisms influence the development of AMD, possibly via modulating choroidal immune function.
The burden of disease in diabetes eye care has reached gargantuan proportions in the 21st century. There are an estimated 552 million people globally who will live with diabetes by the year 2030, with half of this population eventually developing diabetic retinopathy. 1 As such, we are approaching a landmark in history where radical changes in the way we practice ophthalmology will be required to maintain delivery of high quality care to these patients. The examination of the human retina was only made possible in 1851, when Hermann von Helmholtz first held up a lens to a patient's eye using a naked candle as a source of illumination. 2 To this day, ophthalmologists round the world use the same physical principles to perform a retinal examination. The evolution of the ophthalmic examination has occurred in a gradual step-wise fashion, following the developments of its time; for example, the invention of electricity allowing for more powerful light sources, and modern optical lenses that offer a wider field-of-view of the retina. However, it has been the more recent exponential leaps in digital technology that 629983D STXXX10.
Treatment of the neovascular form of age-related macular degeneration (AMD) has been revolutionized by the introduction of such agents as ranibizumab, bevacizumab, and aflibercept. As a result, the incidence of legal blindness occurring secondary to AMD has fallen dramatically in recent years in many countries. While these agents have undoubtedly been successful in reducing visual impairment and blindness, patients with neovascular AMD typically lose some vision over time, and often lose the ability to read, drive, or perform other important activities of daily living. Efforts are therefore under way to develop strategies that allow for earlier detection and treatment of this disease. In this review, we begin by providing an overview of the rationale for, and the benefits of, early detection and treatment of neovascular AMD. To achieve this, we begin by providing an overview of the pathophysiology and natural history of choroidal neovascularization, before reviewing the evidence from both clinical trials and “real-world” outcome studies. We continue by highlighting an area that is often overlooked: the importance of patient education and awareness for early AMD detection. We conclude the review by reviewing an array of both established and emerging technologies for early detection of choroidal neovascularization, ranging from Amsler chart testing, to hyperacuity testing, to advanced imaging techniques, such as optical coherence tomography.
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