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Purpose: Among the main causes of blindness and severe vision loss are age-related macular degeneration, diabetic macular oedema, and retinal vein occlusion. The «Do Not Do» recommendations are strategies to improve quality of care and optimise healthcare costs. The aim of this study was to establish, by consensus, practices of low value in the above-mentioned pathologies, in addition to estimating their occurrence., Materials and Methods: Mixed methods study including a first phase of consensus of a multidisciplinary panel of experts using the Nominal Group technique. In the second phase, a retrospective observational study was conducted, by conducting a review of medical records., Results: A total of 7 recommendations were established for age-related macular degeneration, 4 for diabetic macular oedema, and 5 for retinal vein occlusion. A total of 1,012 medical records were reviewed by the 4 participating hospitals. The review of medical records revealed that agreed «Do Not Do's» occurred in a range between 0.6% and 31.4% of the cases included in the study., Conclusions: This study identified «Do Not Do» recommendations in these pathologies that occur relatively often in clinical practice. It is necessary to review the healthcare processes that will enable these practices to be eradicated, and the quality of care to be improved., (Copyright © 2021 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights reserved.)

The clinical case and genetic diagnosis of Kearns-Sayre syndrome (KSS) is described in a young patient. The findings included: ptosis, ocular motility disturbances, pigmentary retinopathy, as well as mitral insufficiency. A muscle biopsy revealed mitochondrial cytopathyand heteroplasmic mitochondrial DNA deletions. KSS is a rare neuromuscular disorder defined by a characteristic triad of progressive external ophthalmoplegia, pigmentary retinopathy and atrioventricular block. Early detection is essential to avoid potential cardiac complications., (Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.)

Clinical Case: We report a case of a 42 year-old male with a macular edema due to idiopathic juxtafoveal retinal telangiectasis type i, treated with 3 sequential injections of intravitreal bevacizumab (1.25 mg in 0.05 ml). Anatomical improvements were observed after one year of follow up., Discussion: There is currently no general consensus regarding the treatment of unilateral idiopathic juxtafoveal telangiectasis. The therapeutic options are, grid laser photocoagulation, intravitreal triamcinolone, verteporfin photodynamic therapy, or anti-VEGF. Visual acuity and anatomical improvements were observed in this case after intravitreal bevacizumab. Thus, intravitreal bevacizumab seems to be effective to treat macular edema in idiopathic juxtafoveal telangiectasis type i., (Copyright © 2011 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.)

In forensic analysis predictive tests for external visible characteristics (or EVCs), including inference of iris color, represent a potentially useful tool to guide criminal investigations. Two recent studies, both focused on forensic testing, have analyzed single nucleotide polymorphism (SNP) genotypes underlying common eye color variation (Mengel-From et al., Forensic Sci. Int. Genet. 4:323 and Walsh et al., Forensic Sci. Int. Genet. 5:170). Each study arrived at different recommendations for eye color predictive tests aiming to type the most closely associated SNPs, although both confirmed rs12913832 in HERC2 as the key predictor, widely recognized as the most strongly associated marker with blue and brown iris colors. Differences between these two studies in identification of other eye color predictors may partly arise from varying approaches to assigning phenotypes, notably those not unequivocally blue or dark brown and therefore occupying an intermediate iris color continuum. We have developed two single base extension assays typing 37 SNPs in pigmentation-associated genes to study SNP-genotype based prediction of eye, skin, and hair color variation. These assays were used to test the performance of different sets of eye color predictors in 416 subjects from six populations of north and south Europe. The presence of a complex and continuous range of intermediate phenotypes distinct from blue and brown eye colors was confirmed by establishing eye color populations compared to genetic clusters defined using Structure software. Our study explored the effect of an expanded SNP combination beyond six markers has on the ability to predict eye color in a forensic test without extending the SNP assay excessively - thus maintaining a balance between the test's predictive value and an ability to reliably type challenging DNA with a multiplex of manageable size. Our evaluation used AUC analysis (area under the receiver operating characteristic curves) and naïve Bayesian likelihood-based classification approaches. To provide flexibility in SNP-based eye color predictive tests in forensic applications we modified an online Bayesian classifier, originally developed for genetic ancestry analysis, to provide a straightforward system to assign eye color likelihoods from a SNP profile combining additional informative markers from the predictors analyzed by our study plus those of Walsh and Mengel-From. Two advantages of the online classifier is the ability to submit incomplete SNP profiles, a common occurrence when typing challenging DNA, and the ability to handle physically linked SNPs showing independent effect, by allowing the user to input frequencies from SNP pairs or larger combinations. This system was used to include the submission of frequency data for the SNP pair rs12913832 and rs1129038: indicated by our study to be the two SNPs most closely associated to eye color., (Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.)

In myopia patients, Rh and acid phosphatase were typed in two groups: group 1 consisted of 214 patients with low myopia (-6 D or less); group 2 of 124 patients with high myopia (more than -6 D). Statistical analysis of the markers showed a good Hardy-Weinberg equilibrium for both groups. In the Rh system there was a significant difference between group 1 and the control population (p < 0.05), but not between group 2 and control (p > 0.1). In the case of ACP there was a significant difference between group 2 and the control population (p < 0.05), but not between group 1 and control (p > 0.25). We conclude that the observed association between myopia and Rh system (chromosome 1) involves low myopia, while the association between myopia and acid phosphatase (chromosome 2) involves high myopia. Further DNA research will lead to more specific results.