Clinical analysis of high myopia in 320 cases in Ningxia Hui Autonomous Region

AIM: To analyze the clinical manifestations and etiological factors of high myopia in 320 cases. <p>METHODS:A total of 320 patients(640 eyes)with high myopia treated in Ningxia Eye Hospital from January 2011 to November 2012 were studied. All of them underwent thorough eye examination and relevant environmental factors were recorded. The following data were analyzed, including gender, ethnicity, age of onset, refractive error, axial length, best corrected visual acuity(BCVA), educational level and living environment. <p>RESULTS: Bilateral high myopia was present in 320 patients(130 men and 190 women; 250 being of Han nationality and 70 of Hui nationality)with a mean age of 42.65±16.51 years(range: 3-80 years); the male to female ratio was 1:1.5. The age of onset was lower than 20 years in 237 patients, higher than 21 yeas in 83 patients, the difference was statistically significant(<i>P</i><0.001). There was no significant difference between diopter and educational level(<i>P</i>>0.05). The patients with BCVA higher than 0.3 increased with diopter increased, while BCVA lower than 0.8 and between 0.4～0.7 reduced. Refraction was significantly negatively correlated with BCVA(<i>r</i>=-0.196, <i>P</i><0.05)and positive correlated with axial length(<i>r</i>=0.681, <i>P</i><0.05). <p>CONCLUSION: In the study, patients with high myopia tend to have early onset, low educational level, and spacious living environment. Such results indicate that the genetic factors may be the main cause of high myopia in this group. The higher the degree of myopia was, the worse BCVA and the longer AL would be

De novel heterozygous copy number deletion on 7q31.31-7q31.32 involving TSPAN12 gene with familial exudative vitreoretinopathy in a Chinese family

AIM: To investigate the genetic and clinical characteristics of patients with a large heterozygous copy number deletion on 7q31.31-7q31.32. METHODS: A family with familial exudative vitreoretinopathy (FEVR) phenotype was included in the study. Whole-exome sequencing (WES) was initially used to locate copy number variations (CNVs) on 7q31.31-31.32, but failed to detect the precise breakpoint. The long-read sequencing, Oxford Nanopore sequencing Technology (ONT) was used to get the accurate breakpoint which is verified by quantitative real-time polymerase chain reaction (QPCR) and Sanger Sequencing. RESULTS: The proband, along with her father and younger brother, were found to have a heterozygous 4.5 Mb CNV deletion located on 7q31.31-31.32, which included the FEVR-related gene TSPAN12. The specific deletion was confirmed as del(7)(q31.31q31.32)chr7:g.119451239_123956818del. The proband exhibited a phase 2A FEVR phenotype, characterized by a falciform retinal fold, macular dragging, and peripheral neovascularization with leaking of fluorescence. These symptoms led to a significant decrease in visual acuity in both eyes. On the other hand, the affected father and younger brother showed a milder phenotype. CONCLUSION: The heterozygous CNV deletion located on 7q31.31-7q31.32 is associated with the FEVR phenotype. The use of long-read sequencing techniques is essential for accurate molecular diagnosis of genetic disorders

Analysis of retinal hemodynamics in patients with diabetic retinopathy by color Doppler ultrasonography

AIM: To analyze the changes of retinal hemodynamics in patients with diabetic retinopathy(DR)by color Doppler ultrasonography. METHODS: Totally 96 patients(96 eyes)with diabetes mellitus(DM)treated in our hospital from June 2014 to May 2017 were selected and divided into A, B, C three groups. Group A consisted of 32 DM patients(32 eyes), Group B with 32 cases(32 eyes)of non-proliferative diabetic retinopathy(NPDR), Group C 32 cases(32 eyes)of proliferative diabetic retinopathy(PDR), and 30 healthy volunteers(30 eyes)were set as control group. All patients' the central retinal artery(CRA), posterior ciliary artery(PCA), ophthalmic artery(OA)hemodynamic changes were detected by color Doppler ultrasound. And the relation of HbA1c and FBG with diabetic lesion degree were studied. RESULTS: The hemodynamic indexes of CRA, PCA and OA in each group were statistically significant(PP>0.05). The PSV and EDV of CRA, PCA and OA in Group C were the lowest, and the RI was the highest, which had a significant difference between Group A and B(PPPCONCLUSION: Color Doppler ultrasound monitoring changes of CRA, PCA, OA hemodynamics in diabetic patients can bring us more understand in retinal blood flow, and play a vital role in prevention and treatment of diabetic retinopathy

Experimental and numerical investigation of mid-infrared laser in Pr3+-doped chalcogenide fiber

International audienc

Identification of a novel p.R1443W mutation in </b><i><b>RP1</b></i><b> gene associated with retinitis pigmentosa </b><i><b>sine pigmento</b>

<b>AIM:</b> To screen mutations in the <i>retinitis pigmentosa 1</i> (<i>RP1</i>) gene and the <i>rhodopsin </i>(<i>RHO</i>) gene in Chinese patients with retinitis pigmentosa <i>sine pigmento</i> (RPSP) and describe the genotype-phenotype relationship of the mutations.<b>METHODS:</b>Twenty affected, unrelated Chinese individuals with RPSP (4 autosomal dominant RPSP, 12 autosomal recessive RPSP and 4 unknown inheritance pattern) were recruited between 2009 and 2012. The clinical features were determined by complete ophthalmologic examinations. Polymerase chain reaction (PCR) and direct DNA sequencing were used to screen the entire coding region and splice junctions of the <i>RP1</i> gene and the <i>RHO</i> gene. The cosegregation analysis and population frequency studies were performed for patients with identified mutations.<b>RESULTS:</b> Five variants in the <i>RP1</i> gene and one in the <i>RHO</i> gene were detected in 20 probands. Four missense changes (rs444772, rs446227, rs414352, rs441800) and one non-coding variant (rs56340615) were common SNPs and none of them showed a significant relationship with RPSP. A missense mutation p.R1443W was identified in the <i>RP1</i> gene in three affected individuals from a family with autosomal dominant RPSP and was found to cosegregate with the phenotype in this family, suggestive of pathogenic. In addition, population frequency analysis showed the p.R1443W mutation was absent in 300 healthy controls.<b>CONCLUSION:</b> The identification of p.R1443W mutation cosegregating in a family with autosomal dominant RPSP highlights an atypical phenotype of the <i>RP1</i> gene mutation, while RHO gene is not associated with the pathogenesis of RPSP in this study. To our knowledge, this is the fist mutation identified to associate with RPSP

Prevalence and associated factors of corneal blindness in Ningxia in northwest China

<b>AIM:</b>To describe the prevalence and demographic characteristics of corneal blindness in an urban and rural region of Ningxia, located in the northwest part of China.<b>METHODS:</b>A stratified, randomized sampling procedure was employed in the study, including urban and rural area of all age group. Visual acuity, anterior segment and ocular fundus were checked. Related factor of corneal disease, including age, gender, education status, ethnic group, location and occupation, were identified according to uniform customized protocol. An eye was defined to be corneal blindness if the visual acuity was &lt;20/400 due to a corneal disease.<b>RESULTS:</b>Three thousand individuals (1290 from urban area and 1710 from rural area) participated in the investigation, with a response rate of 80.380%. The prevalence of corneal blindness was 0.023% in both eyes and 0.733% in at least one eye. The blindness in at least one eye with varied causes was present in 106 participants (3.533%) and in bilateral eyes in 34 participants (1.133%). The corneal diseases accounted for 20.754% of blindness in at least one eye and 20.588% of bilateral blindness. The prevalence of corneal disease was higher in older and Han ethnic group, especially those who occupied in agriculture and outdoor work. People with corneal blindness were more likely to be older and lower education. Rural population were more likely to suffer from bilateral corneal blindness than the urban population in ≥59-year group (<i>χ</i>²=6.716, <i>P=</i>0.019). Infectious, trauma and immune corneal disease were the three leading causes of corneal disease. Trauma corneal disease was more likely leading to blindness in one eye. However, infectious and immune corneal diseases make more contribution to the bilateral corneal blindness.<b>CONCLUSION:</b> Corneal blindness is a significant burden of in Ningxia population, encompassing a variety of corneal infections and trauma; the majority of those were avoidable. Health promotion strategies and good hygienic conditions have to be developed

ILC Reference Design Report Volume 1 - Executive Summary

The International Linear Collider (ILC) is a 200-500 GeV center-of-mass high-luminosity linear electron-positron collider, based on 1.3 GHz superconducting radio-frequency (SCRF) accelerating cavities. The ILC has a total footprint of about 31 km and is designed for a peak luminosity of 2x10^34 cm^-2s^-1. This report is the Executive Summary (Volume I) of the four volume Reference Design Report. It gives an overview of the physics at the ILC, the accelerator design and value estimate, the detector concepts, and the next steps towards project realization.The International Linear Collider (ILC) is a 200-500 GeV center-of-mass high-luminosity linear electron-positron collider, based on 1.3 GHz superconducting radio-frequency (SCRF) accelerating cavities. The ILC has a total footprint of about 31 km and is designed for a peak luminosity of 2x10^34 cm^-2s^-1. This report is the Executive Summary (Volume I) of the four volume Reference Design Report. It gives an overview of the physics at the ILC, the accelerator design and value estimate, the detector concepts, and the next steps towards project realization

ILC Reference Design Report Volume 4 - Detectors

This report, Volume IV of the International Linear Collider Reference Design Report, describes the detectors which will record and measure the charged and neutral particles produced in the ILC's high energy e+e- collisions. The physics of the ILC, and the environment of the machine-detector interface, pose new challenges for detector design. Several conceptual designs for the detector promise the needed performance, and ongoing detector R&D is addressing the outstanding technological issues. Two such detectors, operating in push-pull mode, perfectly instrument the ILC interaction region, and access the full potential of ILC physics.This report, Volume IV of the International Linear Collider Reference Design Report, describes the detectors which will record and measure the charged and neutral particles produced in the ILC's high energy e+e- collisions. The physics of the ILC, and the environment of the machine-detector interface, pose new challenges for detector design. Several conceptual designs for the detector promise the needed performance, and ongoing detector R&D is addressing the outstanding technological issues. Two such detectors, operating in push-pull mode, perfectly instrument the ILC interaction region, and access the full potential of ILC physics