12 research outputs found

    Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium

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    Purpose To evaluate the roles of known myopia-associated genetic variants for development of myopic macular degeneration (MMD) in individuals with high myopia (HM), using case-control studies from the Consortium of Refractive Error and Myopia (CREAM). Methods A candidate gene approach tested 50 myopia-associated loci for association with HM and MMD, using meta-analyses of case-control studies comprising subjects of European and Asian ancestry aged 30 to 80 years from 10 studies. Fifty loci with the strongest associations with myopia were chosen from a previous published GWAS study. Highly myopic (spherical equivalent [SE] -5.0 diopters [D]) cases with MMD (N = 348), and two sets of controls were enrolled: (1) the first set included 16,275 emmetropes (SE -0.5 D); and (2) second set included 898 highly myopic subjects (SE -5.0 D) without MMD. MMD was classified based on the International photographic classification for pathologic myopia (META-PM). Results In the first analysis, comprising highly myopic cases with MMD (N = 348) versus emmetropic controls without MMD (N = 16,275), two SNPs were significantly associated with high myopia in adults with HM and MMD: (1) rs10824518 (P = 6.20E-07) in KCNMA1, which is highly expressed in human retinal and scleral tissues; and (2) rs524952 (P = 2.32E-16) near GJD2. In the second analysis, comprising highly myopic cases with MMD (N = 348) versus highly myopic controls without MMD (N = 898), none of the SNPs studied reached Bonferroni-corrected significance. Conclusions Of the 50 myopia-associated loci, we did not find any variant specifically associated with MMD, but the KCNMA1 and GJD2 loci were significantly associated with HM in highly myopic subjects with MMD, compared to emmetropes

    Prevention and management of myopia and myopic pathology

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    10.1167/iovs.18-25221Investigative Ophthalmology and Visual Science602488-49

    Correlation of en face optical coherence tomography angiography averaging versus single-image quantitative measurements with retinal vein occlusion visual outcomes

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    To demonstrate the effect of averaging multiple en face optical coherence tomography angiography images on the correlation between retinal microvasculature quantitative metrics and best-corrected visual acuity (BCVA) in eyes with retinal vein occlusion

    Correlation of Quantitative Measurements with Diabetic Disease Severity Utilizing Multiple En-Face OCTA Image Averaging

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    Purpose: To evaluate the effect of averaging en-face optical coherence tomography angiography (OCTA) images on quantitative measurements of the retinal microvasculature and their correlation to diabetic retinopathy (DR) disease severity. Design: Cross-sectional cohort study PARTICIPANTS: 105 eyes (65 patients) with 28 eyes from 19 healthy, aged-matched controls, 14 eyes from 9 diabetics without DR and 63 eyes from 37 diabetics with varying levels of DR. Methods: Spectral-domain OCTA images with uniform illumination, good foveal centration, and no macular edema or significant motion artifact were acquired 5 times with the 3x3 mm scan pattern on the CIRRUSTM 5000 HD-OCT with AngioPlex (Carl Zeiss Meditec, Dublin, CA) software. En-face images of the superficial retinal layer (SRL) and deep retinal layer (DRL) were registered and averaged. Included eyes had a signal strength 657. Vessel length density (VLD), perfusion density (PD) and foveal avascular zone (FAZ) parameters were measured on averaged versus single OCTA images. Pearson correlation coefficient compared the two groups. Univariate and multivariate linear regression correlated quantitative metrics to DR severity and best corrected visual acuity (BCVA). Results: 84 eyes (55 patients) met the inclusion criteria. Almost uniformly, lower VLD and PD parameters were significantly associated with worse DR severity and BCVA. Multivariable linear regression for DR severity resulted in an R2 value of 0.82 and 0.77 for single and averaged groups, respectively. No variables remained significantly associated with DR severity in multivariate analysis with single images but in averaged images, increased superior SRL PD significantly predicted worse DR severity (coefficient 52.7, p=0.026). Multivariate linear regression for BCVA had an R2 value of 0.42 and 0.47 for single and averaged groups, respectively. FAZ size was not associated with DR severity when single OCTA images (p=0.98) were considered, but was highly associated when using averaged images (coefficient 6.18, p<0.001). FAZ size was predictive for logMAR BCVA with averaged images (0.21, p=0.004), but not with single images (p=0.31). Conclusions: Averaging of en-face OCTA images improves the visualization of capillaries, particularly increasing the clarity of the FAZ borders, and therefore improves the correlation of vessel density and FAZ-specific parameters to DR severity and BCVA
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