Main Cause Of Blindness Research Articles

Prevalence of pathological myopia in Upper Egypt

Background and aim Pathological myopia (PM) is one of the main causes of blindness globally, and its prevalence continues to increase rapidly over time. The aim of this study was to investigate the prevalence of PM in the clinical population in Assiut City, Upper Egypt, during a period of 1 year. Patients and methods This cross-sectional study was carried out on a clinical population attending a large ophthalmology center in Assiut City, Upper Egypt, during the period from January to December 2018. All patients were subjected to full ophthalmologic examination. The noncycloplegic refraction was measured using an autorefractometer. The examined eyes were diagnosed as PM if they had refraction of more than or equal to −6 D spherical equivalent or an axial length of more than or equal to 25.5 mm. Results The study included 1548 eyes of 812 patients. Pathologically myopic eyes represented 152 eyes, with a prevalence of 9.82%. Of the total included patients, 102 (12.6%) patients had at least one pathologically myopic eye. Patients with bilateral PM represented 73 (71.6%) cases. Their refractive error ranged from −6.0 to −26.0 D, with a mean of −13.24±4.13 D, and their mean axial length was 28.2±2.14 mm and ranged from 26.1 to 35.2 mm. Conclusion The prevalence of PM in the studied sample was 9.82%, which was obviously higher compared with studies on other populations. Further large community-based studies are warranted to determine its prevalence as a step to overcome this true burden.

Hypercoagulable States Therapy in Nonarteritic Anterior Ischemic Optic Neuropathy (NAION)

Background Ischemic optic neuropathy is one of the main causes of blindness or visual impairment in middle age or elderly population. Nonarteritic Anterior Ischemic Optic Neuropathy (NAION) is the most common type of ischemic optic neuropathy. Systemic risk factors such as hypertension, diabetes mellitus, nocturnal hypotension, sleep apnea, cardiovascular disease and hypercoagulable states are related to NAION. The aim of the study was to evaluate the clinical outcome of hypercoagulable states therapy in NAION patients. Methods This study is a retrospective study conducted at Cipto Mangunkusumo Hospital Jakarta. All NAION patients with age more than 19 y.o were included. Patients were divided into 4 group; group 1: NAION patients treated with hypercoagulable states therapy, group 2: NAION patients treated with anticoagulant therapy, group 3: NAION patients treated with antiplatelet therapy and group 4: NAION patient without anticoagulant, antiplatelet or hypercoagulable states therapy. Results The total sample were 49 patients (49 eyes). Twenty-six patients (56.5%) were diagnosed with hypercoagulable state. In group 1 – 3 half of the patients (50%) had clinical improvements with anticoagulant, antiplatelet and hypercoagulable therapy. Conclusion Hypercoagulable states therapy may improve clinical outcome of NAION.

Knowledges, Attitudes and Practices Related to Primitive Open Angle Glaucoma in The Adult Population in Northern Benin

Introduction: Primary Open Angle Glaucoma (POAG) is a serious condition responsible for irreversible blindness. It is one of the main causes of blindness in developing countries. Purpose: To assess the knowledges, attitudes and practices relating to Primary Open Angle Glaucoma (POAG) in the adult population in northern Benin. Patients and methods: This was a cross-sectional descriptive and analytical study. It concerned all persons aged 18 years old and over. We had done a two-stage sampling. The Chi2 test, at the 5% threshold, had been used to study the associations. Results: Of a total of 560 subjects, 548 (97.85%) participated in the study. The mean age was 33.1 ± 16.5 years. The male sex was more represented (61.13%) with a sex ratio of 1.57. The secondary level was represented with 46.35% (n = 254) and as an occupation, 22.63% (n = 124) were traders. 70.99% (n = 389) of subjects had heard of eye disease, of which only 8.76% (n = 48) had heard of glaucoma. It is called Naradiou in Bariba. But only 1.24% had a good knowledge of the disease. 50% (n = 24) did not known the cause, 4.17% (n = 2) attributed it to the curse and 2.08% (n = 1) to witchcraft. 72.50% (n = 35) knew that glaucoma could progress to blindness and 59.09% (n = 13) thought it was irreversible. 79.17% (n = 38) of subjects knew that there is a treatment, 52.63% (n = 20) said it was medical, 36.84% (n = 14) said it was surgical and 10, 53% (n = 4) thought it is traditional. The attitude was bad in 57.74% of the cases. Education and occupation were significantly associated with glaucoma knowledge and practice, but only gender was statistically related to attitude with a p-value of 0.0052. Conclusion: The level of knowledge of POAG in the adult population in northern Benin is alarming, as is the attitude and the practice which remains to be improved. Communication programs for behavior change must be initiated in order to reduce the rate of blindness linked to this pathology in this population.

Knowledges, Attitudes and Practices of Diabetic Patients Face to Diabetic Retinopathy in Parakou in 2019

Introduction: Diabetic retinopathy is one of the main causes of blindness. Preventive measures and screening will reduce its impact. Objective: Study the knowledges, attitudes and practices of diabetic patients about diabetic retinopathy from 03 hospitals in the District of Parakou in 2019. Methods: The study was carried out in 03 hospitals in northern Benin (University and Regional Health Center of Borgou and Alibori, Army Health Center of Parakou, and the Diabetes Center of Benin. This was a descriptive and analytical cross-sectional prospective study that covered a period of 03 months from 15th May to 20th August, 2019. The sampling method was non-probability. Selection of diabetic patients was exhaustive taking care for the consent of each patient. The aged group was at least 18 years old and above, resident in Parakou and followed up in one of the above heath centers. We enrolled 150 patients after submitted them to some questionnaires. Results: From the total number of 150 patients, 59.33% were male. The mean age was 55.07 ± 11.62 years. The participants were predominantly married (87.33%) and 62% of them were literate. 48% of patients said diabetes mellitus is responsible of eye complications. 52% and 12% of patients reported that balancing blood sugar and normalizing blood pressure, respectively, are preventative factors for diabetic retinopathy. 27.33% of patients reported the need for a regular eye fundus exam. 12.67% of patients have a regular annual eye fundus examination and 56.67% of patients have never had one. Education and gender were associated with level of knowledges; education and low income were associated with level of practices. Conclusion: Reducing the impact of diabetic retinopathy requires better involvement of the diabetic patient, the ophthalmologist, the endocrinologist and the authorities of the Ministry of Health.

Enriched environment and visual stimuli protect the retinal pigment epithelium and photoreceptors in a mouse model of non-exudative age-related macular degeneration

Non-exudative age-related macular degeneration (NE-AMD), the main cause of blindness in people above 50 years old, lacks effective treatments at the moment. We have developed a new NE-AMD model through unilateral superior cervical ganglionectomy (SCGx), which elicits the disease main features in C57Bl/6J mice. The involvement of oxidative stress in the damage induced by NE-AMD to the retinal pigment epithelium (RPE) and outer retina has been strongly supported by evidence. We analysed the effect of enriched environment (EE) and visual stimulation (VS) in the RPE/outer retina damage within experimental NE-AMD. Exposure to EE starting 48 h post-SCGx, which had no effect on the choriocapillaris ubiquitous thickness increase, protected visual functions, prevented the thickness increase of the Bruch’s membrane, and the loss of the melanin of the RPE, number of melanosomes, and retinoid isomerohydrolase (RPE65) immunoreactivity, as well as the ultrastructural damage of the RPE and photoreceptors, exclusively circumscribed to the central temporal (but not nasal) region, induced by experimental NE-AMD. EE also prevented the increase in outer retina/RPE oxidative stress markers and decrease in mitochondrial mass at 6 weeks post-SCGx. Moreover, EE increased RPE and retinal brain-derived neurotrophic factor (BDNF) levels, particularly in Müller cells. When EE exposure was delayed (dEE), starting at 4 weeks post-SCGx, it restored visual functions, reversed the RPE melanin content and RPE65-immunoreactivity decrease. Exposing animals to VS protected visual functions and prevented the decrease in RPE melanin content and RPE65 immunoreactivity. These findings suggest that EE housing and VS could become an NE-AMD promising therapeutic strategy.

7, 8-Dihydroxyflavone, a TrkB receptor agonist, provides minimal protection against retinal vascular damage during oxygen-induced ischemic retinopathy.

Retinopathy of prematurity (ROP) is one of the main causes of blindness in children worldwide. Brain-derived neurotrophic factor (BDNF) and its receptor, tropomyosin-related kinase B (TrkB), play critical protective roles in the development and function of neurons and vasculature. Lack of BDNF expression results in increased endothelial cell apoptosis and reduced endothelial cell-cell contact. Premature babies who develop ROP tend to have lower serum BDNF levels. BDNF expression is also significantly lower in mouse retinas following exposure to hyperoxia compared to those reared in room air. Specifically, BDNF promotes angiogenic tube formation of endothelial cells (EC), and it is considered an EC survival factor required for stabilization of intramyocardial vessels. We hypothesized that the activation of TrkB receptor protects retinal vasculature in the mice during oxygen-induced ischemic retinopathy (OIR), a model of ROP. To test this hypothesis, we treated neonatal mice with 7,8-dihydroxyflavone (DHF) (5 mg/kg body weight), a TrkB receptor agonist. We examined its potential protective effects on retinal vessel obliteration and neovascularization, two hallmarks of ROP and OIR. We found that retinas from DHF treated postnatal day 8 (P8) and P12 mice have similar levels of vessel obliteration as retinas from age-matched control mice subjected to OIR. Similarly, DHF showed no significant effect on mitigation of retinal neovascularization during OIR in P17 mice. Collectively, our studies demonstrate that the TrkB receptor agonist DHF provides no significant protective effects during OIR.

«Do Not Do» recommendations for retinopathies: A mixed consensus study.

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. 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. 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. 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.

Medication Trends for Age-Related Macular Degeneration.

Age-related macular degeneration (AMD) is central vision loss with aging, was the fourth main cause of blindness in 2015, and has many risk factors, such as cataract surgery, cigarette smoking, family history, hypertension, obesity, long-term smart device usage, etc. AMD is classified into three categories: normal AMD, early AMD, and late AMD, based on angiogenesis in the retina, and can be determined by bis-retinoid N-retinyl-N-retinylidene ethanolamine (A2E)-epoxides from the reaction of A2E and blue light. During the reaction of A2E and blue light, reactive oxygen species (ROS) are synthesized, which gather inflammatory factors, induce carbonyl stress, and finally stimulate the death of retinal pigment epitheliums (RPEs). There are several medications for AMD, such as device-based therapy, anti-inflammatory drugs, anti-VEGFs, and natural products. For device-based therapy, two methods are used: prophylactic laser therapy (photocoagulation laser therapy) and photodynamic therapy. Anti-inflammatory drugs consist of corticosteroids and non-steroidal anti-inflammatory drugs (NSAIDs). Anti-VEGFs are classified antibodies for VEGF, aptamer, soluble receptor, VEGF receptor-1 and -2 antibody, and VEGF receptor tyrosine kinase inhibitor. Finally, additional AMD drug candidates are derived from natural products. For each medication, there are several and severe adverse effects, but natural products have a potency as AMD drugs, as they have been used as culinary materials and/or traditional medicines for a long time. Their major application route is oral administration, and they can be combined with device-based therapy, anti-inflammatory drugs, and anti-VEGFs. In general, AMD drug candidates from natural products are more effective at treating early and intermediate AMD. However, further study is needed to evaluate their efficacy and to investigate their therapeutic mechanisms.

Efficacy and safety of acupuncture combined with Chinese herbal medicine in the treatment of type 2 diabetes mellitus: A protocol for a systematic review and meta-analysis.

Background:Diabetes has become a global public health problem and danger to human health. Diabetes is the main cause of blindness, kidney failure, heart attack, stroke, and lower limb amputation. According to the latest epidemiological survey and research, the overall prevalence of diabetes in mainland China is 11.2%, of which type 2 diabetes mellitus (T2DM) accounts for more than 90% acupuncture combined with Chinese herbal medicine have been widely used in the treatment of T2DM. However, we have not found a meta-analysis of their synergistic effects. Therefore, this systematic review and meta-analysis aims to evaluate the efficacy and safety of acupuncture combined with Chinese herbal medicine in the treatment of T2DM.Method:From inception up to September 20, 2021, the PubMed, Web of Science, Embase, AMED, Cochrane Library, CNKI, VIP, CBM, and Wanfang databases will be searched. The publication date or language will not be limited. We will apply a combination of medical keywords, including “acupuncture”, “Chinese herbal medicine”, and “type 2 diabetes mellitus”. We will also check other ongoing and unpublished studies in the clinical trial registry. At the same time, we will manually search all reference lists from relevant systematic reviews to find other eligible studies. We will use Review Manager software (REVMAN v5.3 Cochrane Collaboration) to meta-analyze the selected literature. The study for acupuncture combined with Chinese herbal medicine in the treatment of T2DM was a randomized controlled study. Two researchers will independently review the research selection, data extraction, and research quality assessments. Finally, we will observe the outcome measures.Results:This study will generate evidence-based data on the treatment of T2DM with acupuncture combined with Chinese herbal medicine and will provide new ideas and treatment modalities to investigate in future research.

Feature definition and comprehensive analysis on the robust identification of intraretinal cystoid regions using optical coherence tomography images

Currently, optical coherence tomography is one of the most used medical imaging modalities, offering cross-sectional representations of the studied tissues. This image modality is specially relevant for the analysis of the retina, since it is the internal part of the human body that allows an almost direct examination without invasive techniques. One of the most representative cases of use of this medical imaging modality is for the identification and characterization of intraretinal fluid accumulations, critical for the diagnosis of one of the main causes of blindness in developed countries: the Diabetic Macular Edema. The study of these fluid accumulations is particularly interesting, both from the point of view of pattern recognition and from the different branches of health sciences. As these fluid accumulations are intermingled with retinal tissues, they present numerous variants according to their severity, and change their appearance depending on the configuration of the device; they are a perfect subject for an in-depth research, as they are considered to be a problem without a strict solution. In this work, we propose a comprehensive and detailed analysis of the patterns that characterize them. We employed a pool of 11 different texture and intensity feature families (giving a total of 510 markers) which we have analyzed using three different feature selection strategies and seven complementary classification algorithms. By doing so, we have been able to narrow down and explain the factors affecting this kind of accumulations and tissue lesions by means of machine learning techniques with a pipeline specially designed for this purpose.

A Review of DNA and Histone Methylation Alterations in the New Era of Diagnosis and Treatment of Retinal Diseases.

Epigenetics has an important role in gene regulation and other cellular processes. DNA methylation, as one of the main mechanisms of epigenetics, is a type of post-replication modifications. Aberrant DNA methylation can alter gene expression patterns; so, it plays a considerable role in the pathogenesis of many diseases. DNA methylated alterations in the promoter of specific genes can be used for the diagnosis and proprietary targets acting as a "biomarker". Early diagnosis and prevention may be possible due to these biomarkers. According to recent studies, DNA methylation abnormalities have an important role in the retinogenesis and pathogenesis of retinal diseases. Retinal diseases are the main cause of blindness and severe vision loss in the world, which will continue to increase. Also, they inflict an enormous burden on society and health care systems. Therefore, it is important to focus on the better recognition and prevention of retinal diseases and finding new targets for the treatment. DNA methylation is lionized as attractive therapeutic targets due to its reversibility. Epigenetic therapy has a high potency in the treatment of retinal diseases. Here, we reviewed the DNA and histone methylation alterations in common retinal diseases, focusing on agerelated macular degeneration (AMD), diabetic retinopathy, retinal detachment (RD), retinitis pigmentosa, retinal aging, and retinoblastoma. Then we surveyed some new approaches to epigenetic therapy in retinal disorders.

The scenario of childhood blindness and its remedy in Nepal

Childhood blindness represents one of the most common disabling and for children. There are approximately 1.4 million blind children worldwide and two-thirds live in the developing countries like Nepal. In Nepal more than 80% of the causes of childhood blindness are preventable. The main causes of blindness are diseases related to cornea, retina, lens optic nerve, refractive errors, amblyopia and hereditary. Most of the cases of unilateral childhood blindness are due to corneal causes. To decrease the burden of blindness, awareness program about various ocular diseases, nutritional blindness, ocular trauma, refractive errors, strabismus and amblyopia should be provided to the community health workers and parents. School screening programs and free eye camps should be conducted and motivate the community for regular eye checkup and follow up. Eye services should reach to rural areas and for poor socio-economic condition. Eye health education should focus on proper nutrition of children and harmful effects of traditional eye medicines. The objective of this study was to investigate the magnitude of childhood blindness in Nepal along with their possible causes. Similarly, this study is aimed to highlight the best possible modalities for the remedy of childhood blindness in the developing countries like Nepal.

Rapid assessment of prevalence of blindness and cataract surgery in Kabul province, Afghanistan

ObjectiveTo estimate prevalence and causes of blindness and vision impairment and assess cataract surgical coverage and quality of cataract surgery in Kabul.Methods and analysisA total of 3751 adults aged 50...

Cataract Surgery in Elderly Subjects with Heterozygous Familial Hypercholesterolemia in Prolonged Treatment with Statins.

Background: Cataracts are the main cause of blindness and represent one fifth of visual problems worldwide. It is still unknown whether prolonged statin treatment favors the development of cataracts. We aimed to ascertain the prevalence of cataract surgery in elderly subjects with genetically diagnosed heterozygous familial hypercholesterolemia (HeFH) receiving statin treatment for ≥5 years, and compare this with controls. Methods: This is an observational, multicenter, case–control study from five lipid clinics in Spain. We collected data with the following inclusion criteria: age ≥65 years, LDL cholesterol levels ≥220 mg/dL without lipid-lowering drugs, a pathogenic mutation in a candidate gene for HeFH (LDLR, APOB, or PCSK9) and statin treatment for ≥5 years. Controls were selected from relatives of HeFH patients without hypercholesterolemia. Linear and logistic regressions based on generalized linear models and generalized estimating equations (GEE) were used. Cataract surgery was used as a proxy for cataract development. Results: We analyzed 205 subjects, 112 HeFH, and 93 controls, with a mean age of 71.8 (6.5) and 70.0 (7.3) years, respectively. HeFH subjects presented no difference in clinical characteristics, including smoking, hypertension, and type 2 diabetes mellitus, compared with controls. The mean duration of lipid-lowering treatment in HeFH was 22.5 (8.7) years. Cataract surgery prevalence was not significantly different between cases and controls. The presence of cataracts was associated neither with LDLc nor with the length of the statin therapy. Conclusion: In the present study, HeFH was not a risk factor for cataract surgery and prolonged statin treatment did not favor it either. These findings suggest that statin treatment is not related with cataracts.

New Qualitative Methods for Assessing the “Fluid” in the Retina in Age-Related Macular Degeneration

Age-related macular degeneration (AMD) is a chronic disease of the central retina and one of the main causes of blindness in patients over 60 years of age in industrialized countries. Currently, anti-vascular endothelial growth factor therapy (anti-VEGF therapy) has become the standard of neovascular AMD treatment, leading to the prevention of progressive vision loss in more than 90 % of treated patients during a two-year follow-up period. In the modern world there are transition from quantitative assessment of “fluid” according to optical coherence tomography (OCT) — the thickness of the central retinal zone, to qualitative — the presence of IRF, SRF, fluid under RPE. The data obtained by Zinkernagel have shown that, despite good functional results (an increase in visual acuity), the administration of the drug once every 2 months leads not only to fluctuations in IRF and SRF, but also to serous PED [4]. The existing qualitative and quantitative analysis is not perfect. Fluctuation is a new qualitative marker of the study of disease activity, it is defined as the sum of all types of fluid (IRF + SRF + fluid under RPE) in a certain time interval (with monthly measurement of the indicator). The fluctuation index was determined from the cumulative change in the thickness of the retina in the fovea over time [6]. Thus, the fluid is considered as a key morphological criterion for the activity of nVMD and an indication for (initiation or continuation) of antiangiogenic therapy. At the same time, there is evidence that a lower level of each type of fluid (IRF, SRF, fluid under RPE) is associated with better BCVA results against the background of anti-VEGF therapy [17]. The stability of retinal thickness during anti-VEGF therapy is no less important parameter than the statement of fluid resolution at a certain time, and it appears that better control of the central retinal thickness was associated with higher overall NEI VFQ-25 scores and individual scales reflecting important daily activities of the patient [16].

Hemorrhage Detection Based on 3D CNN Deep Learning Framework and Feature Fusion for Evaluating Retinal Abnormality in Diabetic Patients.

Diabetic retinopathy (DR) is the main cause of blindness in diabetic patients. Early and accurate diagnosis can improve the analysis and prognosis of the disease. One of the earliest symptoms of DR are the hemorrhages in the retina. Therefore, we propose a new method for accurate hemorrhage detection from the retinal fundus images. First, the proposed method uses the modified contrast enhancement method to improve the edge details from the input retinal fundus images. In the second stage, a new convolutional neural network (CNN) architecture is proposed to detect hemorrhages. A modified pre-trained CNN model is used to extract features from the detected hemorrhages. In the third stage, all extracted feature vectors are fused using the convolutional sparse image decomposition method, and finally, the best features are selected by using the multi-logistic regression controlled entropy variance approach. The proposed method is evaluated on 1509 images from HRF, DRIVE, STARE, MESSIDOR, DIARETDB0, and DIARETDB1 databases and achieves the average accuracy of 97.71%, which is superior to the previous works. Moreover, the proposed hemorrhage detection system attains better performance, in terms of visual quality and quantitative analysis with high accuracy, in comparison with the state-of-the-art methods.

A Novel Eye Cataract Diagnosis and Classification Using Deep Neural Network

Eye Cataract is one of the main causes of blindness. It affects mostly people at the age of 60.In India, half of the aged people have cataract or have already treated by a surgery. The cataract identification is highly complicated in an early stage. To achieve this, experts chose the concepts of Deep Learning. In this paper we proposed Dense-Net and U-Net to detect and classify the eye cataract. Further, we took 200 samples of eye image to determine the presence of cataract with its severity. Finally, the comparison of Dense-Net and U-Net are tabulated interms of accuracy, sensitivity, and specificity. Hence, it proven that U- Net gives 10% accurate results than Dense Net.

RNA sequencing and bioinformatics analysis of human lens epithelial cells in age-related cataract

BackgroundAge-related cataract (ARC) is the main cause of blindness in older individuals but its specific pathogenic mechanism is unclear. This study aimed to identify differentially expressed genes (DEGs) associated with ARC and to improve our understanding of the disease mechanism.MethodsAnterior capsule samples of the human lens were collected from ARC patients and healthy controls and used for RNA sequencing to detect DEGs. Identified DEGs underwent bioinformatics analyses, including Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses. Subsequently, reverse transcription quantitative RT-qPCR was used to validate the different expression levels of selected genes.ResultsA total of 698 up-regulated DEGs and 414 down-regulated DEGs were identified in ARC patients compared with controls by transcriptome analysis. Through GO and KEGG bioinformatics analysis, the functions of significantly DEGs and their possible molecular mechanisms were determined. Sequencing results were verified by RT-qPCR as being accurate and reliable.ConclusionsThis study identified several genes associated with ARC, which improves our knowledge of the disease mechanism.

Recomendaciones «no hacer» para retinopatías: estudio mixto de consenso

Background and objectiveAmong 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 methodsMixed 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. ResultsA 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. ConclusionsThis 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.

Clinical characteristics and germline mutation spectrum of RB1 in Chinese patients with retinoblastoma: A dual-center study of 145 patients

Retinoblastoma (Rb) is the most common primary intraocular childhood malignancy and one of the main causes of blindness in children. In China, most tumors are diagnosed at an advanced stage and have relatively poor outcomes compared to developed countries. Here, we aimed to update the clinical manifestations and RB transcriptional corepressor 1 (RB1) mutation spectrum in Chinese Rb patients. Medical charts of 184 eyes in 145 Chinese Rb patients belonging to unrelated families were reviewed. Genomic DNA was isolated from peripheral blood of the patients and their parents. Mutation analysis of whole coding regions, promoter regions and flanking splice sites in the RB1 gene was performed. In addition, multiplex ligation-dependent probe amplification (MLPA) was done to detect gross aberrations. Germline RB1 mutations were observed in 37.2% (54/145) of Rb patients. RB1-mutated patients presented with earlier age of diagnosis (p = 0.019), with a significantly larger proportion of bilateral cases (p = <0.001) and secondary malignancies (p = 0.027) relative to those without RB1 mutations. For ocular clinical presentations, RB1-mutated retinoblastomas presented with a larger proportion of ectropion uveae (p = 0.017) and iris neovascularization (p = 0.001). These RB1 mutations comprised of 13 (24.1%) nonsense mutation, 13 (24.1%) splicing mutations, 11 (20.4%) frameshift deletions, 11 (20.4%) gross mutations, 3 (5.6%) missense mutations, 2 (3.7%) promoter mutations and 1 (1.9%) non-frameshift deletion. In addition, 8 novel RB1 mutations were identified. These germline RB1 mutations were not related to age at diagnosis or laterality. Here, we provide a comprehensive spectrum of RB1 germline mutations in Chinese Rb patients and describe correlations between RB1 mutations and clinical presentations. Our study also provides new evidence that will inform management and genetic counselling of Rb patients and families.