Abstract：
BACKGROUND:To explore the molecular genetic cause of a four-generation autosomal dominant congenital cataract family in China. METHODS:Targeted region sequencing was performed to screen for the potential mutation, and Sanger sequencing was used to confirm the mutation. The homology model was constructed to identify the protein structural change, PolyPhen-2 and Provean were used to predict the mutation impact. Functional and cellular analysis of the wild and mutant GJA8 were performed in DF-1 cells by western blotting, dye uptake assay, immunofluorescence, Annexin V-FITC staining. RESULTS:A novel heterozygous mutation (c.205G > A; p.Ala69Thr) was identified within GJA8, which cosegregated with congenital cataract phenotype in this family. Bioinformatics analysis showed the mutation was located in a highly conserved region, and the mutation was predicted to be pathogenic. Function analysis indicated that the mutation inhibited GJA8 hemichannel activity, reduced cell tolerance to oxidative stress, changed the protein distribution pattern and inhibited the cell growth. CONCLUSIONS:We have identified a novel missense mutation in GJA8 (c.205G > A, p.Ala69Thr) in a four-generation Chinese family and our results will further broaden the gene mutation spectrum of GJA8.
journal_name
BMC Ophthalmoljournal_title
BMC ophthalmologyauthors
Li D,Xu C,Huang D,Guo R,Ji J,Liu Wdoi
10.1186/s12886-020-01725-1subject
Has Abstractpub_date
2020-11-20 00:00:00pages
461issue
1issn
1471-2415pii
10.1186/s12886-020-01725-1journal_volume
20pub_type
杂志文章abstract：BACKGROUND:Endogenous endophthalmitis could lead to a devastating outcome without a prompt and appropriate management. We report a case of advanced endogenous Klebsiella pneumoniae endophthalmitis with extensive subretinal abscess that was successfully treated with a vitrectomy. CASE PRESENTATION:A systemically well 6...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-018-0908-x
更新日期：2018-09-05 00:00:00
abstract：BACKGROUND:Reports of central corneal thickness (CCT) among glaucoma patients, particularly for pseudoexfoliative glaucoma (PXG) and Primary Angle Closure Glaucoma (PACG) are scarce in the Sub-Saharan African (SSA) population. The aim of this study is to evaluate CCT in black patients with newly diagnosed glaucoma and ...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-016-0334-x
更新日期：2016-08-31 00:00:00
abstract：BACKGROUND:The tear film breakup time (tBUT) is a clinical evaluation of evaporative dry eye disease assessed by instilling topical fluorescein into the eyes. In the present study, we introduce a new diagnostic test, blinking tolerance time (BTT), for self-evaluation of tear-film stability. We compared the results with...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-020-01686-5
更新日期：2020-11-04 00:00:00
abstract：BACKGROUND:To analyse the associated factors, diagnosis, clinical manifestations and therapeutic effects of Acanthamoeba keratitis at a tertiary ophthalmic centre in Southern China. METHODS:A retrospective clinical study was performed in fifteen patients who were admitted to Zhongshan Ophthalmic Centre (ZOC) from Janu...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-017-0571-7
更新日期：2017-10-02 00:00:00
abstract：BACKGROUND:Immunoglobulin G4-related disease (IgG4-rd) is characterized by lymphoplasmacytic infiltration and tissue fibrosis. Orbital manifestations of IgG4-rd may include unilateral or bilateral proptosis, cicatricial extraocular muscle myopathy, orbital inflammation and pain which may mimic ophthalmic Graves' diseas...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-018-0672-y
更新日期：2018-01-12 00:00:00
abstract：BACKGROUND:The purpose of this study was to identify the genetic cause and describe the clinical phenotype of Schnyder corneal dystrophy (SCD) in six unrelated probands. METHODS:We identified two white Czech, two white British and two South Asian families with a clinical diagnosis of SCD. Ophthalmic assessment include...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-018-0918-8
更新日期：2018-09-17 00:00:00
abstract：BACKGROUND:Despite growing number of intraocular lens power calculation formulas, there is no evidence that these formulas have good predictive accuracy in pediatric, whose eyes are still undergoing rapid growth and refractive changes. This study is intended to compare the prediction error and the accuracy of predictab...
journal_title：BMC ophthalmology
pub_type： 杂志文章,随机对照试验
doi：10.1186/1471-2415-10-20
更新日期：2010-08-25 00:00:00
abstract：BACKGROUND:To evaluate the 6-month clinical outcomes of Flexivue Microlens refractive corneal inlay in emmetropic patients in Asia for the surgical compensation of presbyopia. METHODS:In this retrospective study, corneal inlay implantation was done using a femtosecond laser. The follow-up period was 6 months. Near/int...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-019-1069-2
更新日期：2019-03-05 00:00:00
abstract：BACKGROUND:To investigate machine learning methods, ranging from simpler interpretable techniques to complex (non-linear) "black-box" approaches, for automated diagnosis of Age-related Macular Degeneration (AMD). METHODS:Data from healthy subjects and patients diagnosed with AMD or other retinal diseases were collecte...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/1471-2415-15-10
更新日期：2015-01-27 00:00:00
abstract：BACKGROUND:Glaucoma is one of the most leading causes of permanent visual impairments in Korea, and social expenses spent for the glaucoma are increasing. This study is to identify association between socioeconomic status and the visual impairments caused by primary glaucoma in Korea. METHODS:This study is based on a ...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-017-0551-y
更新日期：2017-08-23 00:00:00
abstract：BACKGROUND:To evaluate the effects of anterior capsular opening size on deviation from predicted refraction and the effective position of the intraocular lens (ELP) in cataract surgery. METHODS:Nonrandomized clinical trial. Eighty patients (80 eyes) with simple age-related cataracts were treated from May 2018 to Septe...
journal_title：BMC ophthalmology
pub_type： 临床试验,杂志文章
doi：10.1186/s12886-019-1068-3
更新日期：2019-02-21 00:00:00
abstract：BACKGROUND:The SRK/T formula is one of the third generation IOL calculation formulas. The purpose of this study was to evaluate the performance of the SRK/T formula in predicting a target refraction ±1.0D in short and long eyes using ultrasound biometry after phacoemulsification. METHODS:The present study was a retros...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-016-0271-8
更新日期：2016-07-08 00:00:00
abstract：BACKGROUND:To evaluate the efficacy of triple therapy consisting of single-session photodynamic therapy (PDT), intravitreal bevacizumab (IVB) and intravitreal triamcinolone (IVT) as initial pulse therapy followed by repeat intravitreal bevacizumab injections for maintenance treatment in neovascular age-related macular ...
journal_title：BMC ophthalmology
pub_type： 临床试验,杂志文章
doi：10.1186/1471-2415-7-10
更新日期：2007-06-07 00:00:00
abstract：BACKGROUND:Although most patients with visual impairment due to corneal diseases can be treated successfully with surgery, some require visual rehabilitation to restore reading ability. To evaluate the best LVAs especially in terms of reading speed and characterize this specific patient group we performed a prospective...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-020-01436-7
更新日期：2020-05-06 00:00:00
abstract：BACKGROUND:To report a case of late closure of idiopathic full-thickness macular hole (FTMH) after vitrectomy with the inverted internal limiting membrane (ILM) technique. CASE PRESENTATION:A 68-year-old lady with a stage IV FTMH underwent pars plana vitrectomy with 25 gauge plus transconjunctival system, ILM peeling ...
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pub_type： 杂志文章
doi：10.1186/s12886-015-0104-1
更新日期：2015-08-26 00:00:00
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journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/1471-2415-8-21
更新日期：2008-10-26 00:00:00
abstract：BACKGROUND:The aim of this study was to prove the relationship between the intraocular straylight level and diabetic retinopathy (DR) according to disease severity. Also, we aimed to evaluate whether diabetes mellitus (DM) per se could be a risk factor of increased intraocular straylight although we did not rely on a d...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-015-0120-1
更新日期：2015-10-13 00:00:00
abstract：BACKGROUND:Previous analyses of real-life data indicated that injection frequency and health care costs did not differ for anti-VEGF treatment with aflibercept and ranibizumab. The objective of this study was to investigate whether this finding persisted when analysing a longer time period after licensing. METHODS:Ret...
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pub_type： 杂志文章
doi：10.1186/s12886-017-0617-x
更新日期：2017-12-04 00:00:00
abstract：:Although the mechanism of dry eye disease is not clearly understood, it is certain that inflammation and the immune response play a major role in determining the health of the ocular surface in dry eye patients. Accurate ocular surface characterization during the early stages of dry eye disease is critical for success...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-015-0133-9
更新日期：2015-12-17 00:00:00
abstract：BACKGROUND:To report six cases of CD34+ fibroblastic mesenchymal tumours, which are uncommon neoplasms in the orbit. CASE PRESENTATION:Six patients presenting with proptosis and palpable mass who were later diagnosed with fibrous solitary tumours, fibrous histocytoma or haemangiopericytoma in the orbit were included. ...
journal_title：BMC ophthalmology
pub_type： 杂志文章,评审
doi：10.1186/s12886-017-0455-x
更新日期：2017-04-27 00:00:00
abstract：BACKGROUND:An increase in macular thickness due to fluid accumulation in the macula in patients with diabetes mellitus. Optical coherence tomography (OCT) has been shown to be highly reproducible in measuring macular thickness in normal individuals and diabetic patients. OCT can detect subtle changes of macular thickne...
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pub_type： 杂志文章,收录出版
doi：10.1186/1471-2415-13-11
更新日期：2013-04-09 00:00:00
abstract：:Conjunctival and subconjunctival fibrogenesis and inflammation are sight compromising side effects that can occur subsequent to glaucoma filtration surgery. Despite initial declines in intraocular pressure resulting from increasing aqueous outflow, one of the activated responses includes marshalling of proinflammatory...
journal_title：BMC ophthalmology
pub_type： 杂志文章,评审
doi：10.1186/s12886-015-0134-8
更新日期：2015-12-17 00:00:00
abstract：BACKGROUND:To investigate indocyanine green angiography (ICGA) findings in patients with long-standing Vogt-Koyanagi-Harada (VKH) disease and their correlation with disease activity on clinical examination as well as with systemic corticosteroid therapy. METHODS:Twenty-eight patients (51 eyes) with long-standing (≥6 m...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/1471-2415-12-40
更新日期：2012-08-13 00:00:00
abstract：BACKGROUND:This objective of the review and analysis is to demonstrate that acyclovir (ACV) 3% ophthalmic ointment is superior to idoxuridine (IDU) in treating herpetic keratitis (HK) presenting as dendritic and geographic ulcer sub-types. METHODS: DATA SOURCES:Publications in human subjects were identified by search...
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pub_type： 杂志文章,meta分析,评审
doi：10.1186/s12886-015-0022-2
更新日期：2015-04-17 00:00:00
abstract：BACKGROUND:To evaluate the retinal function before and soon after an intravitreal injection of an anti-vascular endothelial growth factor (anti-VEGF) agents. METHODS:Seventy-nine eyes of 79 patients that were treated by an intravitreal injection of an anti-VEGF agent for age-related macular degeneration (AMD), diabeti...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-019-1129-7
更新日期：2019-06-17 00:00:00
abstract：BACKGROUND:To compare the efficacy of phacoemulsification (PKE) combined with nonpenetrating deep sclerectomy (NPDS) with mitomycin C (MMC) versus XEN® gel stent with MMC. METHODS:In this nonrandomized, retrospective, comparative, single-center pilot study, 105 consecutive eyes of 75 patients with uncontrolled primary...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-020-01492-z
更新日期：2020-06-16 00:00:00
abstract：BACKGROUND:To develop a side-view imaging technique for observing the dynamic behavior of posterior chamber structures (PCSs) in porcine eyes which mimics closed-eye cataract surgery in humans. METHODS:Enucleated porcine eyes were placed into liquid nitrogen for 5 seconds and immediately bisected at about a 45-degree ...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/1471-2415-13-47
更新日期：2013-09-23 00:00:00
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journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-016-0229-x
更新日期：2016-05-05 00:00:00
abstract：BACKGROUND:This study evaluates the efficacy and tolerability (ie, occurrence and severity of hyperemia) of bimatoprost 0.01% in treatment-naïve patients with open-angle glaucoma (OAG) or ocular hypertension in the Korean clinical setting. METHODS:In this multicenter, open-label, observational study, treatment-naïve p...
journal_title：BMC ophthalmology
pub_type： 杂志文章,多中心研究
doi：10.1186/1471-2415-14-160
更新日期：2014-12-17 00:00:00
abstract：BACKGROUND:Surgery for trichiasis is one of the pillars of the World Health Organization's strategy for global elimination of trachoma as a public health problem. A high incidence of post-operative trichiasis or other poor surgical outcomes could jeopardize these efforts. In this review, we aimed to summarize the repor...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-020-01564-0
更新日期：2020-11-17 00:00:00
