Multimodal imaging in Best Vitelliform Macular Dystrophy: Literature review and novel insights.

Best Vitelliform Macular Dystrophy (BVMD) is a dominantly inherited retinal disease caused by dominant variants in the BEST1 gene. The original classification of BVMD is based on biomicroscopy and color fundus photography (CFP); however, advancements in retinal imaging provided unique structural, vascular, and functional data and novel insights on disease pathogenesis. Quantitative fundus autofluorescence studies informed us that lipofuscin accumulation, the hallmark of BVMD, is unlikely to be a primary effect of the genetic defect. It could be due to a lack of apposition between photoreceptors and retinal pigment epithelium in the macula with subsequent accumulation of shed outer segments over time. Optical Coherence Tomography (OCT) and adaptive optics imaging revealed that vitelliform lesions are characterized by progressive changes in the cone mosaic corresponding to a thinning of the outer nuclear layer and then disruption of the ellipsoid zone, which are associated with a decreased sensitivity and visual acuity. Therefore, an OCT staging system based on lesion composition, thus reflecting disease evolution, has been recently developed. Lastly, the emerging role of OCT Angiography proved a greater prevalence of macular neovascularization, the majority of which are non-exudative and develop in late disease stages. In conclusion, effective diagnosis, staging, and clinical management of BVMD will likely require a deep understanding of the multimodal imaging features of this disease.

Retinal vascular tortuosity: Mechanisms and measurements.

Retinal vessel tortuosity has been used in the diagnosis and management of different clinical situations. Notwithstanding, basic concepts, standards and tools of measurement, reliable normative data and clinical applications have many gaps or points of divergence. In this review we discuss triggering causes of retinal vessel tortuosity and resources used to assess and quantify it, as well as current limitations.

Use of Anti-VEGF Drugs in Retinal Vein Occlusions.

Retinal vein occlusion (RVO) is one of the most prevalent causes of visual loss in the Western World. Its pathogenesis is still not completely known. Chronic macular edema and ischemia compromise the functional and anatomical status of the retina. Antivascular endothelial growth factor (anti-VEGF) injections have demonstrated better results than other previous options, including observation or laser therapy. This narrative review aims to analyze the current aspects related to these drugs.

Agreement between retinal images obtained via smartphones and images obtained with retinal cameras or fundoscopic exams - systematic review and meta-analysis.

BACKGROUND: Smartphone fundoscopy is a new option for visualizing the ocular fundus but must be validated before being included in population-based examinations. Our aim was to evaluate the quality of fundoscopic images obtained via smartphone and to compare their agreement with retinal camera images or clinical examination. METHODS: The database for this study included all observational studies with smartphone fundoscopy that have comparative analyses with the gold standard methods. RESULTS: Out of 121 potentially relevant studies, nine were included in this analysis, comprising a total of 4,219 eyes. Mean age was 56.6 years (SD±8.5). Combined kappa (κ) agreement statistics were equal to 77.77% (95% CI: 70.34%, 83.70%). No heterogeneity was measured by random effects (I 2=zero). CONCLUSION: Fundoscopic images obtained by using smartphones have substantial agreement with gold standards for clinical or photographic exams.

Novel codon 15 RHO gene mutation associated with retinitis pigmentosa.

OBJECTIVE: To describe, in a multimodal way, a new RHO gene mutation with lysine-for-asparagine substitution in autosomal dominant retinitis pigmentosa. METHODS: Case report. Retrospective data analysis. RESULTS: The mutation is located within codon 15 of exon 1 of the RHO gene. A single base-pair transversion lead to a specific lysine-for-asparagine substitution (Asn15Lys). Hypoacusis, myopia, dyschromatopsis and diffuse retinitis pigmentosa were detected. Detailed multimodal images for the posterior segment are presented. CONCLUSION: We present a new mutation with a specific substitution that may cause eye disease and which has not been described previously. There is no description of this variant in the genetic databases.

Ocular Signs Related to Overweight and Arterial Hypertension in Children: A Systematic Review.

BACKGROUND: The ocular effects of obesity and hypertension need to be established and can be used as prognostic markers. OBJECTIVE: To estimate the prevalence of ophthalmological alterations in children and adolescents who are overweight and/or have SAH. METHODS: The database for this study included all observational studies (CS, cohort, case-control and "baseline" description of randomized clinical trials) with children and/or adolescents who were overweight, obese or had SAH and that measured ophthalmological alterations. RESULTS: Comparative studies with healthy children demonstrated positive association between body adiposity with retinal venular dilation, and SAH with retinal arteriolar narrowing. Different retinal fundus cameras and computer-assisted programs to evaluate the retinal vessels, variations in the methods of analysis, adjustments, populations, were the main arguments against formal meta-analysis. The heterogeneity was too high (I2 >90%, in fixed or randomized effects), and the lack of linearity, normal distribution and homoscedasticity did not recommend meta-regression. CONCLUSION: Obesity and SAH show associations with ophthalmological alterations, especially with retinal vessel diameter. Lack of standardization does not allow a quantitative evaluation.

Asthenopia in schoolchildren.

OBJECTIVE: To assess asthenopia prevalence and associated factors in schoolchildren aged 6-16. METHODS: This was a cross-sectional study of all children attending the first to eighth grades at two public schools in the urban region of a medium-sized town in Southern Brazil between April and December 2012. A questionnaire on socioeconomic and cultural matters was answered by parents, while the children answered a questionnaire on asthenopia-related symptoms. The children underwent a complete visual function examination, including measurement of visual acuity, refraction test, cover test, stereopsis, heterophoria assessment, near point of convergence, and accommodative convergence/accommodation ratio. RESULTS: Asthenopia prevalence was 24.7% in a total sample of 964 children. Visual acuity of 20/25 or better in both eyes was found in 92.8% of the children. The stereopsis test was normal in 99.4% of them, and some kind of strabismus was found in 3.5%. About 37.8% had astigmatism, 71.6% had mild hyperopia, 13.6% had moderate hyperopia, and 6.1% were myopic. Near point of convergence was abnormal in 14.0% of the children, and the accommodative convergence/accommodation ratio was found to be altered in 17.1% of them. CONCLUSION: Children and adolescents have expressive prevalence of asthenopia. The prevalence of visual function alterations does not differ from the general population, and, therefore, they are not prerequisites. It is very important that its mechanisms and risk factors be better defined. Health professionals need to be on the lookout for complaints of visual fatigue because of its potential to influence learning and school performance.

Prevalence of asthenopia in children: a systematic review with meta-analysis / Prevalência de astenopia em crianças: análise sistemática com metanálise

OBJECTIVE: To estimate the prevalence of asthenopia in 0-18 year-old children through a systematic review and meta-analysis of prevalence studies.SOURCES: Inclusion criteria were population-based studies from 1960 to May of 2014 reporting the prevalence of asthenopia in children. The search was performed independently by two reviewers in the PubMed, EMBASE, and LILACS databases, with no language restriction. This systematic review was performed in accordance with the Cochrane Collaboration guidelines and the PRISMA Statement. Downs and Black score was used for quality assessment.SUMMARY OF FINDINGS: Out of 1692 potentially relevant citations retrieved from electronic databases and searches of reference lists, 26 were identified as potentially eligible. Five of these studies met the inclusion criteria, comprising a total of 2465 subjects. Pooled prevalence of asthenopia was 19.7% (12.4-26.4%). The majority of children with asthenopia did not present visual acuity or refraction abnormalities. The largest study evaluated 1448 children aged 6 years and estimated a prevalence of 12.6%. Associated risk factors were not clearly established.CONCLUSION: Although asthenopia is a frequent and relevant clinical problem in childhood, with potential consequences for learning, the scarcity of studies about the prevalence and clinical impact of asthenopia hinders the effective planning of public health measures.

OBJETIVO: Estimar a prevalência de astenopia em crianças até 18 anos por meio de uma análise sistemática e uma metanálise dos estudos de prevalência.FONTES DOS DADOS: Os critérios de inclusão foram estudos de base populacional de 1960 a maio de 2014 que relataram prevalência de astenopia em crianças. A busca foi feita de maneira independente por dois analisadores nas bases de dados PubMed, Embase e Lilacs, sem restrição de idioma. Essa análise sistemática foi feita de acordo com as diretrizes da Colaboração Cochrane e com a Declaração dos Itens de Relatório Preferidos para Análises Sistemáticas e Metanálise (Prisma). A escala Downs & Black foi usada para avaliação da qualidade.SÍNTESE DOS DADOS: De 1.692 citações possivelmente relevantes recuperadas de bases de dados eletrônicas e buscas de listas de referência, 26 foram identificadas como possivelmente elegíveis. Cinco desses estudos atenderam aos critérios de inclusão e incluíram 2.465 indivíduos. A prevalência total de astenopia foi de 19,7% (12,4-26,4%). A maioria das crianças com astenopia não apresentava anomalias de acuidade visual ou refração. O maior estudo avaliou 1.448 crianças de seis anos, com prevalência estimada de 12,6%. Os fatores de risco associados não foram claramente estabelecidos.CONCLUSÃO: Embora a astenopia seja um problema clínico frequente e relevante na infância, com possíveis consequências para o aprendizado, a escassez de estudos sobre a prevalência e o impacto clínico da astenopia prejudica o planejamento efetivo das medidas de saúde pública.