Abstract：
BACKGROUND:Congenital cataract is the most frequent cause of blindness during infancy or early childhood. To date, more than 40 loci associated with congenital cataract have been identified, including at least 26 genes on different chromosomes associated with inherited cataract. This present study aimed to identify the genetic mutation in a six-generation Chinese family affected with congenital cataract. METHODS:A detailed six-generation Chinese cataract family history and clinical data of the family members were recorded. A total of 27 family members, including 14 affected and 13 unaffected individuals were recruited. Whole exome sequencing was performed to determine the disease-causing mutation. Sanger sequencing was used to confirm the results. RESULTS:A known missense mutation, c. 139G > A (p. D47N), in Cx50 was identified. This mutation co-segregated with all affected individuals and was not observed in the unaffected family members or in 100 unrelated controls. The homology modeling showed that the structure of the mutant protein was different with that wild-type Cx50. CONCLUSIONS:The missense mutation c.139G > A in GJA8 gene is associated with autosomal dominant congenital cataract in a six-generation Chinese family. The result of this present study provides further evidence that the p. D47N mutation in CX50 is a hot-spot mutation.
journal_name
BMC Ophthalmoljournal_title
BMC ophthalmologyauthors
Shen C,Wang J,Wu X,Wang F,Liu Y,Guo X,Zhang L,Cao Y,Cao X,Ma Hdoi
10.1186/s12886-017-0476-5subject
Has Abstractpub_date
2017-05-19 00:00:00pages
73issue
1issn
1471-2415pii
10.1186/s12886-017-0476-5journal_volume
17pub_type
杂志文章abstract：BACKGROUND:To report a case of proliferative diabetic retinopathy (PDR) exhibiting the appearance of scintillating particles presumed to be crystallin inside the intravitreal cavity after laser photocoagulation. CASE PRESENTATION:A 56-year-old male patient presented at our outpatient clinic after becoming aware of dec...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-017-0654-5
更新日期：2017-12-19 00:00:00
abstract：BACKGROUND:To examine the clinical features of acute acquired comitant esotropia (AACE) and to evaluate the clinical effectiveness of a single injection of botulinum toxin type A (BTXA) on binocular visual function (BVF). METHODS:This retrospective, observational case series study enrolled patients with AACE examined ...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-020-01739-9
更新日期：2020-11-25 00:00:00
abstract：BACKGROUND:This study evaluates patients with congenital aniridia and cataract who underwent phacoemulsification, capsular tension ring placement, and foldable intraocular lens implantation. METHODS:In this prospective case series, 10 patients (17 eyes) underwent cataract surgery via a 3.2 mm clear corneal incision. A...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-017-0503-6
更新日期：2017-07-04 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
abstract：BACKGROUND:This study compared the postoperative outcomes of 27-gauge (G) and 25-G vitrectomy performed for the treatment of idiopathic epiretinal membrane (ERM). METHODS:The study design was single center, retrospective, interventional case series. Two hundred consecutive eyes that underwent primary vitrectomy for ER...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-017-0585-1
更新日期：2017-10-10 00:00:00
abstract：BACKGROUND:Idiopathic orbital pseudotumour is rare in children. We report a case of bilateral paediatric idiopathic orbital pseudotumour and review the characteristics of this case. CASE PRESENTATION:A 14-year-old female patient presented at our Department of Pulmonary and Critical Care Medicine (PCCM) with complaints...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-020-01718-0
更新日期：2020-11-16 00:00:00
abstract：BACKGROUND:Acute acquired comitant esotropia (AACE) is a type of strabismus characterized by a sudden onset of large angle esotropia with diplopia, which often occurs in children after infancy, teenagers, and young adolescents. However, studies on the surgical outcomes of only adults are rare. The purpose of this artic...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-020-01793-3
更新日期：2021-01-18 00:00:00
abstract：BACKGROUND:Because latanoprost and the original formulation of travoprost that included benzalkonium chloride (BAK) have been shown to be similar with regard to tolerability, we compared initial topical intraocular pressure (IOP)-lowering medication change rates in patients newly treated with latanoprost or travoprost-...
journal_title：BMC ophthalmology
pub_type： 杂志文章,多中心研究
doi：10.1186/1471-2415-11-13
更新日期：2011-06-13 00:00:00
abstract：:An amendment to this paper has been published and can be accessed via the original article. ...
journal_title：BMC ophthalmology
pub_type： 杂志文章,已发布勘误
doi：10.1186/s12886-020-01572-0
更新日期：2020-07-31 00:00:00
abstract：BACKGROUND:Aiming at spectacle independence, conventional pseudophakic monovision has been widely used in myopia patients with bilateral monofocal intraocular lens implantation. However, the crossed monovision, which is to correct the dominant eye for near vision and the non-dominant eye for distant vision, has been me...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-020-01694-5
更新日期：2020-11-16 00:00:00
abstract：BACKGROUND:Previous studies described cases of Ocriplasmin injections in patients with vitreo-macular traction and reduced central visual acuity. We describe the first case of a patient with 20/20 visual acuity and vitreo-macular traction treated with Ocriplasmin, and, for the first time in literature, we evaluated the...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-015-0141-9
更新日期：2015-10-29 00:00:00
abstract：BACKGROUND:Iridoschisis is a rare condition that is characterized by the separation of the iris stroma into layers, with portions of the anterior layer floating freely in the aqueous humour. Here, we report three cases of iridoschisis that were complicated by either a cataract or glaucoma. Based on these cases, we spec...
journal_title：BMC ophthalmology
pub_type： 杂志文章,评审
doi：10.1186/s12886-017-0418-2
更新日期：2017-03-14 00:00:00
abstract：BACKGROUND:Characterization of the neuro-glial profile of cells growing out of human idiopathic epiretinal membranes (iERMs) and testing their proliferative and pluripotent properties ex vivo is needed to better understand the pathogenesis of their formation. METHODS:iERMs obtained during uneventful vitrectomies were ...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/1471-2415-14-165
更新日期：2014-12-23 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:The use of capsular tension ring (CTR) implantation to treat cataract patients with weak zonules is still controversial. The aim of this study was to examine the effects of CTR implantation on capsular stability after phacoemulsification in patients with weak zonules, especially patients who have undergone p...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-020-01772-8
更新日期：2021-01-07 00:00:00
abstract：BACKGROUND:To evaluate the prognosis of Chinese patients with lacrimal gland adenoid cystic carcinoma treated with eye-sparing surgery and adjuvant multimodal therapy. METHODS:The study included 24 consecutive patients with lacrimal gland adenoid cystic carcinoma treated at the Ninth People's Hospital of Shanghai from...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-019-1110-5
更新日期：2019-06-08 00:00:00
abstract：BACKGROUND:While pars plana vitrectomy (PPV) has become the third most commonly performed surgery in the world, it can also induce multiple post complications easily. Among them, cataract progression is the most frequent one that can lead to blindness eventually. METHODS:To understand the underlying mechanisms of post...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-018-0729-y
更新日期：2018-02-27 00:00:00
abstract：BACKGROUND:Adenovirus (Ad), associated with significant morbidity, has no topical treatment. A leading CTC compound (CTC-96), a Co(III) chelate, was found to have potent in vitro and in vivo antiviral efficacy against herpes viruses. In this study CTC-96 is being tested for possible anti-Adenovirus activity. METHODS:T...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/1471-2415-6-22
更新日期：2006-06-05 00:00:00
abstract：BACKGROUND:Suture exposure remains to be a potential problem of transscleral fixated posterior chamber intraocular lens (PCIOL). We report a modified technique to minimize the risk of suture exposure for the transscleral fixation of PCIOL. METHODS:The modified surgical technique is as following: at first, two 3 mm × 4...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-015-0118-8
更新日期：2015-10-02 00:00:00
abstract：BACKGROUND:Silicone oil tamponade is more frequently reserved for cases of complex retinal detachment. We describe the effects of different variations in oil ratios with the relatively unknown technique of double oil tamponade. METHODS:Retrospective case note review of nine patients with complex rhegmatogenous retinal...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-017-0660-7
更新日期：2017-12-28 00:00:00
abstract：BACKGROUND:We present a case of post-traumatic endophthalmitis with relatively good prognosis caused by Gordonia sputi, which, to our knowledge is the first case in the literature. CASE PRESENTATION:A 24 year old man, who underwent an intraocular foreign body extraction half a month before presentation in the left eye...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-017-0573-5
更新日期：2017-10-11 00:00:00
abstract：BACKGROUND:Glial heterotopias are rare, benign, congenital, midline, non-teratomatous extracranial glial tissue. They may masquerade as encephalocoele or dermoid cyst and mostly present in nose. Herein, we present an unusual case of glial heterotopia of the orbit with unilateral blindness. CASE PRESENTATION:A 6 year-o...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/1471-2415-11-34
更新日期：2011-11-16 00:00:00
abstract：BACKGROUND:To evaluate the structural changes associated with visual acuity (VA) in patients with idiopathic macular telangiectasia (MT) type 1 using multimodal imaging modalities. METHODS:A retrospective study of 14 patients with MT type 1 and of 10 eyes from 10 healthy individuals as age-matched controls was conduct...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-018-0737-y
更新日期：2018-03-05 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
abstract：BACKGROUND:Graves' disease is a common autoimmune inflammatory condition of the thyroid. About one in four of affected patients also develop orbital symptoms like exophthalmos, proptosis and diplopia - called Graves' Ophthalmopathy. Not all patients respond well to the standard therapy of systemic glucocorticoid admini...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-018-0718-1
更新日期：2018-02-27 00:00:00
abstract：BACKGROUND:To evaluate the relationships between Reichert Ocular Response Analyzer (ORA) parameters corneal hysteresis (CH) and corneal response factor (CRF) and ocular dimensions, age and intraocular pressure. METHODS:Two hundred and twelve eyes of 212 participants with no ocular pathology had CH and CRF measured wit...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/1471-2415-14-11
更新日期：2014-01-30 00:00:00
abstract：BACKGROUND:Ocular coloboma is an excavation of ocular structures that occurs due to abnormal fusion of the embryonic optic fissure. Further, cleft lip/palate (CL/P), a congenital midline abnormality, is caused by a defect in the fusion of the frontonasal, maxillary, and mandibular prominences. No study has reported the...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-020-01696-3
更新日期：2020-10-19 00:00:00
abstract：BACKGROUND:Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare but life-threatening conditions that initially affect the skin and mucous membranes. The aim of this study was to compare the acute ocular manifestations between SJS and TEN. METHODS:The initial presenting ophthalmic records of pat...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-017-0464-9
更新日期：2017-05-12 00:00:00
abstract：BACKGROUND:This study aimed to investigate patient adherence to face-down positioning (FDP) and non-supine positioning (NSP) following vitrectomy with gas tamponade for treating macular holes (MHs). METHODS:Nursing records of 92 patients who underwent vitrectomy with gas tamponade for small-diameter (diameter < 400 μm...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-018-0979-8
更新日期：2018-12-14 00:00:00
abstract：BACKGROUND:Stress-induced activation of the sympathetic nervous system leads to a cascade of metabolic reactions. Emotional stress is a more specific form of stress in which the stressor is a psychological response to a situation subjectively perceived as traumatic. Stress hormones can have a wide range of effects on t...
journal_title：BMC ophthalmology
pub_type： 杂志文章
doi：10.1186/s12886-019-1075-4
更新日期：2019-03-08 00:00:00
