Multi-ethnic genome-wide association study for atrial fibrillation

Atrial fibrillation (AF) affects more than 33 million individuals worldwide and has a complex heritability. We conducted the largest meta-analysis of genome-wide association studies (GWAS) for AF to date, consisting of more than half a million individuals, including 65,446 with AF. In total, we identified 97 loci significantly associated with AF, including 67 that were novel in a combined-ancestry analysis, and 3 that were novel in a European-specific analysis. We sought to identify AF-associated genes at the GWAS loci by performing RNA-sequencing and expression quantitative trait locus analyses in 101 left atrial samples, the most relevant tissue for AF. We also performed transcriptome-wide analyses that identified 57 AF-associated genes, 42 of which overlap with GWAS loci. The identified loci implicate genes enriched within cardiac developmental, electrophysiological, contractile and structural pathways. These results extend our understanding of the biological pathways underlying AF and may facilitate the development of therapeutics for AF

Peripheral Manifestations in Age Related Macular Degeneration: A Review of Imaging and Findings

Purpose: To review novel findings in research with ultra-widefield imaging for analysis of peripheral manifestations in macular degeneration (AMD). We introduce the evolving widefield imaging modalities while summarizing the analytical techniques used in data collection of peripheral retinal findings thus far. Our review provides a summary of advancements to date and a commentary on future direction for AMD research. Methods: This is a literature review of all significant publications focused on the relationship between AMD and the retinal periphery conducted within the last two decades. Results and Conclusion: Promising research has been undertaken to elucidate peripheral retinal manifestations in macular degeneration using novel methodology. Advancements in ultra-widefield imaging and fundus autofluorescence have allowed us to elucidate peripheral retinal pigmentary changes, drusen deposition, and much more. Novel grid overlay techniques have been introduced to aid in analyzing these changes for pattern recognition and grouping of findings. This review discusses these findings in detail, providing evidence for the pan-retinal manifestations of AMD. Inter-study discordance in analytical approach highlights a need for more systematic future study

Surgery for proliferative diabetic retinopathy: New tips and tricks

Over the recent years, retina specialists have enjoyed significant improvements in the surgical management of proliferative diabetic retinopathy including improved preoperative planning, vitreoretinal instrumentation and new surgical maneuvers. In this review, we present new tips and tricks such as preoperative pharmacotherapy approaches including pegaptanib injection and biodegradable dexamethasone implantation, bimanual vitrectomy techniques and the concept of mixing small gauges as well as valved cannulas and intraoperative optical coherence tomography. With advanced surgical planning and sophisticated operative maneuvers tailored to the individual patient, excellent outcomes can be achieved even in severe cases of diabetic tractional detachment

Hemorrhagic choroidal melanoma

Purpose To demonstrate the clinical pathologic correlation in a hemorrhagic choroidal melanoma. Observations A 52 year old patient presented with a large choroidal mass associated with vitreous and retinal hemorrhage. The eye was enucleated and histopathology demonstrated epithelioid-type MART1 positive tumor cells consistent with choroidal melanoma. The tumor had broken through Bruch's membrane, which led to localized vascular compression with bleeding into the subretinal space, retina and vitreous. Conclusions and importance Choroidal melanoma rarely presents with hemorrhage. Tumor rupture through Bruch's membrane may result in a tourniquet effect on the tumor vasculature leading to massive hemorrhage, as in this case. A high level of clinical suspicion is required to make the diagnosis

Conjunctival keratoacanthoma

An 83-year-old man presented with a 1-month history of a rapidly enlarging conjunctival mass. On examination, slit lamp biomicroscopy revealed a leukoplakic tumour at the temporal limbus. The lesion was excised with cryotherapy application to the limbus and conjunctival margins. Histopathology revealed a keratoacanthoma (KA). KA typically occurs on sun-exposed areas of the skin. Conjunctival KA is very rare, and differentiation between conventional squamous cell carcinoma (SCCA) and KA can be challenging. The present case highlights the indication for excisional surgery in patients with conjunctival KA using the no touch technique, cryotherapy, amniotic membrane and the histopathological differentiation between KA and SCCA

Novel grid combined with peripheral distortion correction for ultra-widefield image grading of age-related macular degeneration

Purpose Eyes with age-related macular degeneration (AMD) often harbor pathological changes in the retinal periphery and perimacular region. These extramacular changes have not been well classified, but may be phenotypically and functionally relevant. The purpose of this study was to demonstrate a novel grid to systematically study peripheral retinal abnormalities in AMD using geometric distortion-corrected ultra-widefield (UWF) imaging. Methods: This is a cross-sectional observational case series. Consecutive patients with AMD without any other coexisting vitreoretinal disease and control patients over age 50 without AMD or any other vitreoretinal disease were imaged using Optos 200 Tx. Captured 200° UWF images were corrected for peripheral geometric distortion using Optos transformation software. A newly developed grid to study perimacular and peripheral abnormalities in AMD was then projected onto the images. Results: Peripheral and perimacular changes such as drusen, retinal pigment epithelium changes and atrophy were found in patients with AMD. The presented grid in conjunction with geometric distortion-corrected UWF images allowed for systematic study of these peripheral changes in AMD. Conclusion: We present a novel grid to study peripheral and posterior pole changes in AMD. The grid is unique in that it adds a perimacular zone, which may be important in characterizing certain phenotypes in AMD. Our UWF images were corrected for geometric peripheral distortion to accurately reflect the anatomical dimensions of the retina. This grid offers a reliable and reproducible foundation for the exploration of peripheral retinal pathology associated with AMD