Abstract:
BACKGROUND:Congenital cataract (CC) is a significant cause of lifelong visual loss, and its genetic diagnosis is challenging due to marked genetic heterogeneity. The purpose of this article is to report the genetic findings in sporadic and familial CC patients. METHODS:Patients (n = 53) who were clinically diagnosed with CC and their parents were recruited. Blood samples were collected in our hospital. Mutations were detected by panel-based next-generation DNA sequencing (NGS) targeting 792 genes frequently involved in common inherited eye diseases. RESULTS:We identified variants in 10/37 cases (27.02%) of sporadic CC and 14/16 cases (87.5%) of familial CC, which indicated a significant difference (P = 0.000). Of the 13 variants identified in sporadic cases, nine were previously reported mutations, and three were novel mutations, including one de novo mutation (CRYBB2 c.487C > T). The most frequent variants in our cohort were in crystallins and cytoskeletal genes (5/27, 18.52%), followed by proteins associated with X-linked syndromic conditions (14.81%) and transcriptional factors (11.11%). Additional information on the possibility of complications with inherited ocular or systemic diseases other than CC was provided in 17/27 (62.96%) variants. CONCLUSIONS:These results contribute to expanding the mutation spectrum and frequency of genes responsible for CC. Targeted NGS in CC provided significant diagnostic information and enabled more accurate genetic counselling. This study reports the different distributions of mutation genes in familial and sporadic CC cases.
journal_name
BMC Ophthalmoljournal_title
BMC ophthalmologyauthors
Fan F,Luo Y,Wu J,Gao C,Liu X,Mei H,Zhou Xdoi
10.1186/s12886-020-01567-xsubject
Has Abstractpub_date
2020-09-03 00:00:00pages
361issue
1issn
1471-2415pii
10.1186/s12886-020-01567-xjournal_volume
20pub_type
杂志文章abstract:BACKGROUND:The effects of preservatives of antiglaucoma medications on corneal surface and tear function have been widely shown in literature; it's not the same as regards the active compounds themselves. The purpose of our study was to compare Ocular Surface Disease (OSD) signs and symptoms of Tafluprost 0.0015% versu...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/s12886-017-0534-z
更新日期:2017-08-03 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: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: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: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
abstract:BACKGROUND:To gain more insight into genetic causes of cerebral visual impairment (CVI) in children and to compare ophthalmological findings between genetic and acquired forms of CVI. METHODS:The clinical data of 309 individuals (mainly children) with CVI, and a visual acuity ≤ 0.3 were analyzed for etiology and ocula...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/1471-2415-14-59
更新日期:2014-05-01 00:00:00
abstract:BACKGROUND:Few reports have described the ophthalmic complications that occur after maxillary orthognathic surgery. Since cases of decreased reflex tearing after maxillary orthognathic surgery are extremely rare, we describe 2 cases of loss of reflex tearing after maxillary orthognathic surgery. CASE PRESENTATION:Two ...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/1471-2415-14-37
更新日期:2014-03-28 00:00:00
abstract:BACKGROUND:To evaluate the correlation between visual acuity improvement and vision-related QOL after ranibizumab treatment in Japanese patients with AMD. METHODS:In this one-year prospective, interventional, open-label, multicenter study involving four sites, patients with neovascular AMD were enrolled and observed f...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/s12886-021-01816-7
更新日期:2021-01-23 00:00:00
abstract:BACKGROUND:Macular thickening (MT) without clinically recognized macular edema has been described in anterior uveitis (AU). Although fellow-eyes of patients have been used as controls in several studies, little is known about macular thickness in these eyes. We studied the rate and extent of MT in both AU-affected and ...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/1471-2415-12-30
更新日期:2012-07-29 00:00:00
abstract:BACKGROUND:Refractive errors, strabismus, nystagmus, amblyopia, and cortical visual impairment are observed in 50 to 90 % of patients with cerebral palsy. Ocular abnormalities are known to differ according to cerebral palsy type, and spastic type has been reported to be more likely to be associated with ocular defects ...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/s12886-016-0367-1
更新日期:2016-11-08 00:00:00
abstract:BACKGROUND:This is the third reported case of a steatocystoma simplex in the lacrimal caruncle. CASE PRESENTATION:A 60-year-old male presented with a history of a slowly progressing mass in the right lacrimal caruncle since several years before his initial visit. At the first examination, a yellowish, relatively smoot...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/s12886-016-0358-2
更新日期:2016-10-19 00:00:00
abstract:BACKGROUND:We report the enhanced depth imaging optical coherence tomography (EDI-OCT) characteristics and variations in a patient with subretinal fluid secondary to a carotid cavernous fistula. CASE PRESENTATION:A 59-year-old man presented with blurred vision in his right eye. Venous congestion of the epiescleral and...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/s12886-016-0240-2
更新日期:2016-05-26 00:00:00
abstract:PURPOSE:More than 3 million cataract extractions are undertaken in India annually. Almost 60% of these operations are intracapsular Cataract Extractions. The subsequent optical correction is provided by aphakic spectacles. The aim of this study is to assess visual outcome and perceived benefits of post-operative use of...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/1471-2415-3-9
更新日期:2003-07-28 00:00:00
abstract:BACKGROUND:Retinal detachment is a disorder of the eye in which sensory retina separates from the retinal pigment epithelium (RPE) due to accumulation of fluid in subretinal space. Pharmacological stimulation of fluid reabsorption from subretinal space to choroid across the RPE has been suggested as a treatment strateg...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/1471-2415-11-33
更新日期:2011-11-15 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:To investigate the effect of idiopathic epiretinal membrane (ERM) on the retinal-image quality and psychophysical contrast sensitivity function (CSF). METHODS:Forty-four subjects with diagnosis of idiopathic unilateral ERM were enrolled in this cross-sectional observational clinical study. The fellow unaffe...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/s12886-018-0957-1
更新日期:2018-11-07 00:00:00
abstract:BACKGROUND:To report a case of orbital inflammation after bisphosphonate infusion in a patient who was already receiving immunosuppressive therapy. CASE PRESENTATION:A 56-year-old woman presented to the ophthalmology clinic with acute onset of right eye pain 24 h after receiving her first Zolendronic acid infusion. Sh...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/s12886-019-1063-8
更新日期:2019-02-14 00:00:00
abstract:BACKGROUND:To evaluate the efficacy and safety of intravitreal conbercept (KH902) as the primary treatment of choroidal neovascularization secondary to punctate inner choroidopathy. METHODS:This study was a retrospective, consecutive, observational case series. We reviewed medical records of 16 eyes (16 patients) with...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/s12886-017-0481-8
更新日期:2017-06-12 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: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: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: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 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 ...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/s12886-015-0104-1
更新日期:2015-08-26 00:00:00
abstract:BACKGROUND:Patients' feedback is of great importance in health care policy decisions. The Consumer Quality Index Cataract Questionnaire (CQI Cataract) was used to measure patients' experiences with quality of care after a cataract operation. This study aims to evaluate the reliability and the dimensional structure of t...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/1471-2415-7-14
更新日期:2007-09-19 00:00:00
abstract:BACKGROUND:Dry eye is a common problem that affects many people worldwide, reducing quality of life and impacting daily activities. A qualitative approach often used in medicine and other disciplines is used to evaluate how people with dry eye cope with this impact. METHODS:Six focus group sessions were conducted at t...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/s12886-018-0671-z
更新日期:2018-01-16 00:00:00
abstract:BACKGROUND:A few case reports have described accidental eye injuries caused by fish hooks. The severity of ocular injuries is dependent on the involved ocular structures. Severe ocular injuries due to fish hooks are rare. We describe open globe and penetrating eyelid injuries from fish hooks at the Baltic Sea. METHODS...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/s12886-019-1040-2
更新日期:2019-01-21 00:00:00
abstract:BACKGROUND:Currently, various types of toric intraocular lenses (IOL) have been manufactured and can be divided into three types according to the location of correction component; front-toric IOL (correction on anterior IOL surface), back-toric IOL (correction on posterior IOL surface), and bi-toric IOL (correction on ...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/s12886-020-01439-4
更新日期:2020-04-28 00:00:00
abstract:BACKGROUND:To understand which irregular corneal parameters determine the visual quality in keratoconus subjects. METHODS:The cross-sectional study examined the eyes of 44 subjects, graded from the first to third keratoconus stages by Amsler-Krumeich classification. We obtained measurements in two ways: (a) by project...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/s12886-020-01737-x
更新日期:2020-11-26 00:00:00
abstract:BACKGROUND:Numerous studies have suggested that the integrity of the cone interdigitation zone (IZ) could be considered to be a marker of photoreceptor damage and its recovery. However, little is known about the IZ in healthy eyes. Our present study was to measure the cone IZ area by optical coherence tomography (OCT),...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/s12886-018-0862-7
更新日期:2018-08-01 00:00:00
abstract:BACKGROUND:To report a case of disseminated fusariosis with endogenous endophthalmitis in a patient with acute lymphoblastic leukemia. Transfusion-associated immune modulation secondary to platelet transfusion could play an important role in the pathophysiology of this case. CASE PRESENTATION:A 9 year-old male with ac...
journal_title:BMC ophthalmology
pub_type: 杂志文章
doi:10.1186/1471-2415-11-30
更新日期:2011-11-02 00:00:00